Canonical Allele Identifier: CA337514336
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20843284C>T , CM000686.2:g.20843284C>T GRCh38
NC_000024.9:g.23005170C>T , CM000686.1:g.23005170C>T GRCh37
NC_000024.8:g.21414558C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000406090.1:n.427G>A