Canonical Allele Identifier: CA579870184

Gene:

Linked Data

• dbSNP Id: rs1469601951
• gnomAD v2: 8-5765070-G-A
• MyVariant Identifiers: chr8:g.5765070G>A (hg19) ; chr8:g.5907548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907548G>A , CM000670.2:g.5907548G>A	GRCh38
NC_000008.10:g.5765070G>A , CM000670.1:g.5765070G>A	GRCh37
NC_000008.9:g.5752478G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7817C>T
XR_941375.1:n.308-7817C>T
XR_941376.1:n.406-7817C>T
XR_941377.1:n.308-7817C>T
XR_941378.1:n.216-7817C>T
XR_001745765.1:n.308-7817C>T
XR_001745766.1:n.406-7817C>T
XR_001745767.1:n.216-7817C>T
XR_001745768.1:n.308-7817C>T
XR_941374.2:n.308-7817C>T
XR_941375.2:n.308-7817C>T