Canonical Allele Identifier: CA24910479

Gene:

Linked Data

• dbSNP Id: rs947246033
• gnomAD v3: 1-72299352-A-G
• gnomAD v4: 1-72299352-A-G
• MyVariant Identifiers: chr1:g.72765035A>G (hg19) ; chr1:g.72299352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.72299352A>G , CM000663.2:g.72299352A>G	GRCh38
NC_000001.10:g.72765035A>G , CM000663.1:g.72765035A>G	GRCh37
NC_000001.9:g.72537623A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947505.1:n.310+15947A>G
XR_947506.1:n.310+15947A>G
XR_947507.1:n.310+15947A>G
XR_001737670.1:n.414+15947A>G
XR_001737671.2:n.418+15947A>G
XR_947505.2:n.414+15947A>G
XR_947506.2:n.414+15947A>G