Canonical Allele Identifier: CA173689911

Gene:

Linked Data

• dbSNP Id: rs193285644
• gnomAD v2: 8-20592546-G-A
• gnomAD v3: 8-20735035-G-A
• gnomAD v4: 8-20735035-G-A
• MyVariant Identifiers: chr8:g.20592546G>A (hg19) ; chr8:g.20735035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20735035G>A , CM000670.2:g.20735035G>A	GRCh38
NC_000008.10:g.20592546G>A , CM000670.1:g.20592546G>A	GRCh37
NC_000008.9:g.20636826G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55411G>A