Canonical Allele Identifier: CA337592421
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680874G>A , CM000686.2:g.7680874G>A GRCh38
NC_000024.9:g.7548915G>A , CM000686.1:g.7548915G>A GRCh37
NC_000024.8:g.7608915G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000439805.1:n.616+10G>A