Canonical Allele Identifier: CA934286436
Gene:

Linked Data

dbSNP Id: rs1862669983
gnomAD v3: 11-746993-G-A
gnomAD v4: 11-746993-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.746993G>A , CM000673.2:g.746993G>A GRCh38
NC_000011.9:g.746993G>A , CM000673.1:g.746993G>A GRCh37
NC_000011.8:g.736993G>A NCBI36
NG_008160.1:g.4562G>A

Transcript Alleles

HGVS Amino-acid change
XR_930963.1:n.259+144G>A