Canonical Allele Identifier: CA337768332
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15308137A>G , CM000686.2:g.15308137A>G GRCh38
NC_000024.9:g.17420017A>G , CM000686.1:g.17420017A>G GRCh37
NC_000024.8:g.15929411A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.309+40532T>C