Canonical Allele Identifier: CA577662568

Gene:

Linked Data

• dbSNP Id: rs926321215
• gnomAD v2: 7-123946450-T-C
• gnomAD v3: 7-124306396-T-C
• gnomAD v4: 7-124306396-T-C
• MyVariant Identifiers: chr7:g.123946450T>C (hg19) ; chr7:g.124306396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306396T>C , CM000669.2:g.124306396T>C	GRCh38
NC_000007.13:g.123946450T>C , CM000669.1:g.123946450T>C	GRCh37
NC_000007.12:g.123733686T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-82T>C