Canonical Allele Identifier: CA832742504

Gene:

Linked Data

• dbSNP Id: rs1369397728
• gnomAD v3: 7-124306370-A-C
• gnomAD v4: 7-124306370-A-C
• MyVariant Identifiers: chr7:g.123946424A>C (hg19) ; chr7:g.124306370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306370A>C , CM000669.2:g.124306370A>C	GRCh38
NC_000007.13:g.123946424A>C , CM000669.1:g.123946424A>C	GRCh37
NC_000007.12:g.123733660A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-108A>C