Canonical Allele Identifier: CA732115146

Gene:

Linked Data

• dbSNP Id: rs1857246
• gnomAD v3: 1-224068521-C-T
• gnomAD v4: 1-224068521-C-T
• MyVariant Identifiers: chr1:g.224256223C>T (hg19) ; chr1:g.224068521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068521C>T , CM000663.2:g.224068521C>T	GRCh38
NC_000001.10:g.224256223C>T , CM000663.1:g.224256223C>T	GRCh37
NC_000001.9:g.222322846C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949173.1:n.385+867C>T
XR_001737824.1:n.242+867C>T