Canonical Allele Identifier: CA1007326790

Gene:

Linked Data

• dbSNP Id: rs11239930
• gnomAD v3: 1-147089017-G-T
• gnomAD v4: 1-147089017-G-T

Genomic Alleles

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

Transcript Alleles

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