Canonical Allele Identifier: CA1118842581

Gene:

Linked Data

• dbSNP Id: rs114330659
• gnomAD v3: 8-125474075-C-G
• gnomAD v4: 8-125474075-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474075C>G , CM000670.2:g.125474075C>G	GRCh38
NC_000008.10:g.126486317C>G , CM000670.1:g.126486317C>G	GRCh37
NC_000008.9:g.126555499C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+761C>G