Canonical Allele Identifier: CA6457456
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2859364
ClinVar RCV Id: RCV003621427
dbSNP Id: rs772163071

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718146G>A , CM000674.2:g.12718146G>A GRCh38
NC_000012.11:g.12871080G>A , CM000674.1:g.12871080G>A GRCh37
NC_000012.10:g.12762347G>A NCBI36
NG_016341.1:g.5779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.307G>A ENSP00000507272.1:p.Ala103Thr
ENST00000682620.1:n.1631-679G>A
ENST00000684771.1:n.585-679G>A
ENST00000228872.9:c.307G>A MANE Select ENSP00000228872.4:p.Ala103Thr
ENST00000228872.8:c.307G>A ENSP00000228872.4:p.Ala103Thr
ENST00000396340.1:c.307G>A ENSP00000379629.1:p.Ala103Thr
ENST00000442489.1:c.193+93G>A ENSP00000407597.1:n.193+93G>A
ENST00000477087.1:n.155-679G>A
NM_004064.4:c.307G>A NP_004055.1:p.Ala103Thr
NM_004064.5:c.307G>A MANE Select NP_004055.1:p.Ala103Thr