Canonical Allele Identifier: CA583513404

Gene:

Linked Data

• dbSNP Id: rs530363628
• gnomAD v2: 8-89547870-C-A
• gnomAD v3: 8-88535641-C-A
• gnomAD v4: 8-88535641-C-A
• MyVariant Identifiers: chr8:g.89547870C>A (hg19) ; chr8:g.88535641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88535641C>A , CM000670.2:g.88535641C>A	GRCh38
NC_000008.10:g.89547870C>A , CM000670.1:g.89547870C>A	GRCh37
NC_000008.9:g.89616986C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745651.2:n.1673+10876G>T
XR_001745653.2:n.286-7039C>A
XR_928383.3:n.1475+10876G>T