Canonical Allele Identifier: CA579870049

Gene:

Linked Data

• dbSNP Id: rs1313185950
• gnomAD v2: 8-5764769-A-G
• gnomAD v3: 8-5907247-A-G
• gnomAD v4: 8-5907247-A-G
• MyVariant Identifiers: chr8:g.5764769A>G (hg19) ; chr8:g.5907247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907247A>G , CM000670.2:g.5907247A>G	GRCh38
NC_000008.10:g.5764769A>G , CM000670.1:g.5764769A>G	GRCh37
NC_000008.9:g.5752177A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7516T>C
XR_941375.1:n.308-7516T>C
XR_941376.1:n.406-7516T>C
XR_941377.1:n.308-7516T>C
XR_941378.1:n.216-7516T>C
XR_001745765.1:n.308-7516T>C
XR_001745766.1:n.406-7516T>C
XR_001745767.1:n.216-7516T>C
XR_001745768.1:n.308-7516T>C
XR_941374.2:n.308-7516T>C
XR_941375.2:n.308-7516T>C