Canonical Allele Identifier: CA583513411

Gene:

Linked Data

• dbSNP Id: rs1343522463
• gnomAD v2: 8-89548024-C-G
• gnomAD v3: 8-88535795-C-G
• gnomAD v4: 8-88535795-C-G
• MyVariant Identifiers: chr8:g.89548024C>G (hg19) ; chr8:g.88535795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88535795C>G , CM000670.2:g.88535795C>G	GRCh38
NC_000008.10:g.89548024C>G , CM000670.1:g.89548024C>G	GRCh37
NC_000008.9:g.89617140C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745651.2:n.1673+10722G>C
XR_001745653.2:n.286-6885C>G
XR_928383.3:n.1475+10722G>C