obelus

recorded witness {{ statusLine }}

submitted

genomic

NC_000007.14

coding

NM_000492{{ txVer }}{{ txNote }}

protein

NP_000483.3 · claimed

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coordinate mapping

locus · CFTR · 27 exons · drawn to scale

genome 188,641 bp transcript 6,070 nt

genome

1-based · + strand

g.117,559,579

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transcript exon 11 of 27

interval · 192 bp = 192 nt

g.117,559,464 · n.1,463

g.117,559,655 · n.1,654

transcript

n. · from first base

coding · codon

c = n − 71 + 1

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protein

residues from Met1 · not the base ruler

variant representations

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derivation

g.{{ selGfmt }} · {{ selLetter }}

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consequence

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reference identity

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NCBI NC_000007.14  SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul

UCSC hg38 chr7.fa  SQ.KZ9qSyP_4fsfj3sWAH9JfhGbo5jeo6Bh

154,575,459 R→N  154,578,614 Y→N

154,578,615 S→N  154,578,679 Y→N4 of 159,345,973 positions. NCBI retains IUPAC ambiguity codes; UCSC uses N. All four differences are in DPP6.

derivation

reset

step

check

source

result

outcome

from

{{ lr.wFrom }}

method

qualification

origin

ClinVar germline aggregate

gnomAD v4 exomes

export

{{ exportName }}

format

JSON, keys sorted

size

origin

digests

NCBI NC_000007.14 · UCSC hg38 chr7

replay

not yet implemented

{{ jsonLabel }} download

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references

ClinVar VCV000188863.26 · classification, review status, submissions

RefSeq NM_000492.4 · sequence, CDS, exon structure

RefSeq NP_000483.3 · protein sequence

GA4GH refget · sequence digest

HGVS · variant nomenclature

UCSC hg38 · chromosome 7 comparison

ClinGen Allele Registry CA274056 · registered representations

gnomAD v4 · population frequency

VariantValidator · independent cross-check