Canonical Allele Identifier: CA832742485

Gene:

Linked Data

• dbSNP Id: rs1251091053
• gnomAD v3: 7-124306299-T-C
• gnomAD v4: 7-124306299-T-C
• MyVariant Identifiers: chr7:g.123946353T>C (hg19) ; chr7:g.124306299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306299T>C , CM000669.2:g.124306299T>C	GRCh38
NC_000007.13:g.123946353T>C , CM000669.1:g.123946353T>C	GRCh37
NC_000007.12:g.123733589T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956584.1:n.73-179T>C