Canonical Allele Identifier: CA170474100
Gene:

Linked Data

dbSNP Id: rs11987758
gnomAD v3: 8-2180583-G-A
gnomAD v4: 8-2180583-G-A
MyVariant Identifiers: chr8:g.2180583G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2180583G>A , CM000670.2:g.2180583G>A GRCh38
NC_000008.9:g.2116193G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941356.1:n.112-12352G>A
XR_941355.2:n.133-3441G>A
XR_941356.2:n.133-12352G>A