Canonical Allele Identifier: CA173376453

Gene:

Linked Data

• dbSNP Id: rs1044964765
• gnomAD v2: 8-19987552-G-A
• gnomAD v3: 8-20130041-G-A
• gnomAD v4: 8-20130041-G-A
• MyVariant Identifiers: chr8:g.19987552G>A (hg19) ; chr8:g.20130041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130041G>A , CM000670.2:g.20130041G>A	GRCh38
NC_000008.10:g.19987552G>A , CM000670.1:g.19987552G>A	GRCh37
NC_000008.9:g.20031832G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+122G>A
XR_949563.2:n.3400+122G>A