Canonical Allele Identifier: CA38657638

Gene:

Linked Data

• dbSNP Id: rs945137185
• gnomAD v3: 1-224068626-C-T
• gnomAD v4: 1-224068626-C-T
• MyVariant Identifiers: chr1:g.224256328C>T (hg19) ; chr1:g.224068626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068626C>T , CM000663.2:g.224068626C>T	GRCh38
NC_000001.10:g.224256328C>T , CM000663.1:g.224256328C>T	GRCh37
NC_000001.9:g.222322951C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949173.1:n.385+972C>T
XR_001737824.1:n.242+972C>T