Canonical Allele Identifier: CA1118991773

Gene:

Linked Data

• dbSNP Id: rs1005414393
• gnomAD v3: 8-126999178-C-A
• gnomAD v4: 8-126999178-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999178C>A , CM000670.2:g.126999178C>A	GRCh38
NC_000008.10:g.128011423C>A , CM000670.1:g.128011423C>A	GRCh37
NC_000008.9:g.128080605C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7377C>A