Canonical Allele Identifier: CA1697889717
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897507C= , CM000669.2:g.30897507C= GRCh38
NC_000007.13:g.30937122C= , CM000669.1:g.30937122C= GRCh37
NC_000007.12:g.30903647C= NCBI36
NG_007475.2:g.49114C=

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14486C=