Canonical Allele Identifier: CA1118991784

Gene:

Linked Data

• dbSNP Id: rs1814932714
• gnomAD v3: 8-126999231-G-A
• gnomAD v4: 8-126999231-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999231G>A , CM000670.2:g.126999231G>A	GRCh38
NC_000008.10:g.128011476G>A , CM000670.1:g.128011476G>A	GRCh37
NC_000008.9:g.128080658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7324G>A