Canonical Allele Identifier: CA583781779

Gene:

Linked Data

• dbSNP Id: rs1293701074
• gnomAD v2: 8-98282197-C-A
• MyVariant Identifiers: chr8:g.98282197C>A (hg19) ; chr8:g.97269969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269969C>A , CM000670.2:g.97269969C>A	GRCh38
NC_000008.10:g.98282197C>A , CM000670.1:g.98282197C>A	GRCh37
NC_000008.9:g.98351373C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125390.1:n.471+149101G>T