Canonical Allele Identifier: CA185688706

Gene:

Linked Data

• dbSNP Id: rs903687277
• gnomAD v2: 8-128012006-G-A
• MyVariant Identifiers: chr8:g.128012006G>A (hg19) ; chr8:g.126999761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999761G>A , CM000670.2:g.126999761G>A	GRCh38
NC_000008.10:g.128012006G>A , CM000670.1:g.128012006G>A	GRCh37
NC_000008.9:g.128081188G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6794G>A