Canonical Allele Identifier: CA734382549

Gene:

Linked Data

• dbSNP Id: rs1356536712
• gnomAD v3: 1-2567424-G-A
• gnomAD v4: 1-2567424-G-A
• MyVariant Identifiers: chr1:g.2498863G>A (hg19) ; chr1:g.2567424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567424G>A , CM000663.2:g.2567424G>A	GRCh38
NC_000001.10:g.2498863G>A , CM000663.1:g.2498863G>A	GRCh37
NC_000001.9:g.2475555C>T	NCBI36
NG_047096.1:g.16060G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_121638.1:n.71+819G>A