Canonical Allele Identifier: CA119948
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 8823
ClinVar RCV Id: RCV000009371
dbSNP Id: rs121917832

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718066G>A , CM000674.2:g.12718066G>A GRCh38
NC_000012.11:g.12871000G>A , CM000674.1:g.12871000G>A GRCh37
NC_000012.10:g.12762267G>A NCBI36
NG_016341.1:g.5699G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228872.9:c.227G>A MANE Select ENSP00000228872.4:p.Trp76Ter
ENST00000228872.8:c.227G>A ENSP00000228872.4:p.Trp76Ter
ENST00000396340.1:c.227G>A ENSP00000379629.1:p.Trp76Ter
ENST00000442489.1:n.193+13G>A ENSP00000407597.1:p.=
ENST00000477087.1:n.155-759G>A
NM_004064.4:c.227G>A NP_004055.1:p.Trp76Ter
NM_004064.5:c.227G>A MANE Select NP_004055.1:p.Trp76Ter