Canonical Allele Identifier: CA1697889706
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897497C= , CM000669.2:g.30897497C= GRCh38
NC_000007.13:g.30937112C= , CM000669.1:g.30937112C= GRCh37
NC_000007.12:g.30903637C= NCBI36
NG_007475.2:g.49104C=

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14496C=