Canonical Allele Identifier: CA383970546
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1735582
ClinVar RCV Id: RCV002355530

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718224C>A , CM000674.2:g.12718224C>A GRCh38
NC_000012.11:g.12871158C>A , CM000674.1:g.12871158C>A GRCh37
NC_000012.10:g.12762425C>A NCBI36
NG_016341.1:g.5857C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.385C>A ENSP00000507272.1:p.His129Asn
ENST00000682620.1:n.1631-601C>A
ENST00000684771.1:n.585-601C>A
ENST00000228872.9:c.385C>A MANE Select ENSP00000228872.4:p.His129Asn
ENST00000228872.8:c.385C>A ENSP00000228872.4:p.His129Asn
ENST00000396340.1:c.385C>A ENSP00000379629.1:p.His129Asn
ENST00000442489.1:c.193+171C>A ENSP00000407597.1:n.193+171C>A
ENST00000477087.1:n.155-601C>A
NM_004064.4:c.385C>A NP_004055.1:p.His129Asn
NM_004064.5:c.385C>A MANE Select NP_004055.1:p.His129Asn