Canonical Allele Identifier: CA1111626486

Gene:

Linked Data

• dbSNP Id: rs1799796351
• gnomAD v3: 8-20734949-G-A
• gnomAD v4: 8-20734949-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20734949G>A , CM000670.2:g.20734949G>A	GRCh38
NC_000008.10:g.20592460G>A , CM000670.1:g.20592460G>A	GRCh37
NC_000008.9:g.20636740G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55497G>A