Canonical Allele Identifier: CA37327614

Gene:

Linked Data

• dbSNP Id: rs920258840
• gnomAD v3: 1-213682252-C-T
• gnomAD v4: 1-213682252-C-T
• MyVariant Identifiers: chr1:g.213855595C>T (hg19) ; chr1:g.213682252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682252C>T , CM000663.2:g.213682252C>T	GRCh38
NC_000001.10:g.213855595C>T , CM000663.1:g.213855595C>T	GRCh37
NC_000001.9:g.211922218C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738463.1:n.601-49165C>T
XR_001738464.1:n.426-49165C>T