Canonical Allele Identifier: CA731215517

Gene:

Linked Data

• dbSNP Id: rs1366082817
• gnomAD v3: 1-213682277-T-G
• gnomAD v4: 1-213682277-T-G
• MyVariant Identifiers: chr1:g.213855620T>G (hg19) ; chr1:g.213682277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682277T>G , CM000663.2:g.213682277T>G	GRCh38
NC_000001.10:g.213855620T>G , CM000663.1:g.213855620T>G	GRCh37
NC_000001.9:g.211922243T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738463.1:n.601-49140T>G
XR_001738464.1:n.426-49140T>G