Canonical Allele Identifier: CA171706411

Gene:

Linked Data

• dbSNP Id: rs6983145
• gnomAD v2: 8-5764800-C-A
• gnomAD v3: 8-5907278-C-A
• gnomAD v4: 8-5907278-C-A
• MyVariant Identifiers: chr8:g.5764800C>A (hg19) ; chr8:g.5907278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907278C>A , CM000670.2:g.5907278C>A	GRCh38
NC_000008.10:g.5764800C>A , CM000670.1:g.5764800C>A	GRCh37
NC_000008.9:g.5752208C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7547G>T
XR_941375.1:n.308-7547G>T
XR_941376.1:n.406-7547G>T
XR_941377.1:n.308-7547G>T
XR_941378.1:n.216-7547G>T
XR_001745765.1:n.308-7547G>T
XR_001745766.1:n.406-7547G>T
XR_001745767.1:n.216-7547G>T
XR_001745768.1:n.308-7547G>T
XR_941374.2:n.308-7547G>T
XR_941375.2:n.308-7547G>T