Canonical Allele Identifier: CA731215516

Gene:

Linked Data

• dbSNP Id: rs1329604453
• gnomAD v3: 1-213682255-C-T
• gnomAD v4: 1-213682255-C-T
• MyVariant Identifiers: chr1:g.213855598C>T (hg19) ; chr1:g.213682255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682255C>T , CM000663.2:g.213682255C>T	GRCh38
NC_000001.10:g.213855598C>T , CM000663.1:g.213855598C>T	GRCh37
NC_000001.9:g.211922221C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738463.1:n.601-49162C>T
XR_001738464.1:n.426-49162C>T