Canonical Allele Identifier: CA171706424

Gene:

Linked Data

• dbSNP Id: rs961741507
• gnomAD v3: 8-5907321-C-G
• gnomAD v4: 8-5907321-C-G
• MyVariant Identifiers: chr8:g.5764843C>G (hg19) ; chr8:g.5907321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907321C>G , CM000670.2:g.5907321C>G	GRCh38
NC_000008.10:g.5764843C>G , CM000670.1:g.5764843C>G	GRCh37
NC_000008.9:g.5752251C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941374.1:n.308-7590G>C
XR_941375.1:n.308-7590G>C
XR_941376.1:n.406-7590G>C
XR_941377.1:n.308-7590G>C
XR_941378.1:n.216-7590G>C
XR_001745765.1:n.308-7590G>C
XR_001745766.1:n.406-7590G>C
XR_001745767.1:n.216-7590G>C
XR_001745768.1:n.308-7590G>C
XR_941374.2:n.308-7590G>C
XR_941375.2:n.308-7590G>C