Canonical Allele Identifier: CA847118725

Gene:

Linked Data

• dbSNP Id: rs1196912322
• gnomAD v3: 8-127012484-G-A
• gnomAD v4: 8-127012484-G-A
• MyVariant Identifiers: chr8:g.128024729G>A (hg19) ; chr8:g.127012484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012484G>A , CM000670.2:g.127012484G>A	GRCh38
NC_000008.10:g.128024729G>A , CM000670.1:g.128024729G>A	GRCh37
NC_000008.9:g.128093911G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5866G>A