Canonical Allele Identifier: CA337768234
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15303820T>C , CM000686.2:g.15303820T>C GRCh38
NC_000024.9:g.17415700T>C , CM000686.1:g.17415700T>C GRCh37
NC_000024.8:g.15925094T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.309+44849A>G