Canonical Allele Identifier: CA1817441862

Gene:

Linked Data

• dbSNP Id: rs1812776505
• gnomAD v3: 8-125478532-G-A
• gnomAD v4: 8-125478532-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478532G>A , CM000670.2:g.125478532G>A	GRCh38
NC_000008.10:g.126490774G>A , CM000670.1:g.126490774G>A	GRCh37
NC_000008.9:g.126559956G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5218G>A