Canonical Allele Identifier: CA10896420

Gene:

Linked Data

• dbSNP Id: rs11239930
• gnomAD v2: 1-146560564-G-A
• gnomAD v3: 1-147089017-G-A
• gnomAD v4: 1-147089017-G-A
• MyVariant Identifiers: chr1:g.146560564G>A (hg19) ; chr1:g.147089017G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147089017G>A , CM000663.2:g.147089017G>A	GRCh38
NC_000001.10:g.146560564G>A , CM000663.1:g.146560564G>A	GRCh37
NC_000001.9:g.145027188G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000444082.1:n.1845+20845C>T