Canonical Allele Identifier: CA580743498

Gene:

Linked Data

• dbSNP Id: rs1472678178
• gnomAD v2: 8-20592517-C-T
• gnomAD v3: 8-20735006-C-T
• gnomAD v4: 8-20735006-C-T
• MyVariant Identifiers: chr8:g.20592517C>T (hg19) ; chr8:g.20735006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20735006C>T , CM000670.2:g.20735006C>T	GRCh38
NC_000008.10:g.20592517C>T , CM000670.1:g.20592517C>T	GRCh37
NC_000008.9:g.20636797C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55440C>T