Canonical Allele Identifier: CA81296274

Gene:

Linked Data

• dbSNP Id: rs536784378
• gnomAD v2: 3-109462367-G-C
• gnomAD v3: 3-109743520-G-C
• gnomAD v4: 3-109743520-G-C
• MyVariant Identifiers: chr3:g.109462367G>C (hg19) ; chr3:g.109743520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.109743520G>C , CM000665.2:g.109743520G>C	GRCh38
NC_000003.11:g.109462367G>C , CM000665.1:g.109462367G>C	GRCh37
NC_000003.10:g.110945057G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924325.1:n.142+63325G>C