Canonical Allele Identifier: CA548664044

Gene:

Linked Data

• dbSNP Id: rs1298379349
• gnomAD v2: 3-187649408-G-A
• gnomAD v3: 3-187931620-G-A
• gnomAD v4: 3-187931620-G-A
• MyVariant Identifiers: chr3:g.187649408G>A (hg19) ; chr3:g.187931620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187931620G>A , CM000665.2:g.187931620G>A	GRCh38
NC_000003.11:g.187649408G>A , CM000665.1:g.187649408G>A	GRCh37
NC_000003.10:g.189132102G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924814.1:n.1294C>T