Canonical Allele Identifier: CA910080404

Gene:

Linked Data

• dbSNP Id: rs1403013679
• gnomAD v3: 3-72266794-T-C
• gnomAD v4: 3-72266794-T-C
• MyVariant Identifiers: chr3:g.72315945T>C (hg19) ; chr3:g.72266794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266794T>C , CM000665.2:g.72266794T>C	GRCh38
NC_000003.11:g.72315945T>C , CM000665.1:g.72315945T>C	GRCh37
NC_000003.10:g.72398635T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8314A>G