Canonical Allele Identifier: CA855860459

Gene:

Linked Data

• dbSNP Id: rs1471356452
• gnomAD v4: 8-81478378-G-A
• MyVariant Identifiers: chr8:g.82390613G>A (hg19) ; chr8:g.81478378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478378G>A , CM000670.2:g.81478378G>A	GRCh38
NC_000008.10:g.82390613G>A , CM000670.1:g.82390613G>A	GRCh37
NC_000008.9:g.82553168G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16404G>A