Canonical Allele Identifier: CA1702564139
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782385C= , CM000669.2:g.41782385C= GRCh38
NC_000007.13:g.41821983C= , CM000669.1:g.41821983C= GRCh37
NC_000007.12:g.41788508C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745185.1:n.964+46671C=
XR_001745186.1:n.954+46681C=