Canonical Allele Identifier: CA1106753711

Gene:

Linked Data

• dbSNP Id: rs1795647093
• gnomAD v3: 7-124306426-T-C
• gnomAD v4: 7-124306426-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306426T>C , CM000669.2:g.124306426T>C	GRCh38
NC_000007.13:g.123946480T>C , CM000669.1:g.123946480T>C	GRCh37
NC_000007.12:g.123733716T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-52T>C