Canonical Allele Identifier: CA337469132
Gene:

Linked Data

dbSNP Id: rs4141666
gnomAD v3: Y-3828566-G-A
gnomAD v4: Y-3828566-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.3828566G>A , CM000686.2:g.3828566G>A GRCh38
NC_000024.9:g.3696607G>A , CM000686.1:g.3696607G>A GRCh37
NC_000024.8:g.3756607G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938642.1:n.330-3841G>A
XR_001756053.1:n.330-3841G>A
XR_001756054.1:n.155-6898G>A