Canonical Allele Identifier: CA478845607
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2846942
ClinVar RCV Id: RCV003621235
MyVariant Identifiers: chr12:g.12870965T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718031T>C , CM000674.2:g.12718031T>C GRCh38
NC_000012.11:g.12870965T>C , CM000674.1:g.12870965T>C GRCh37
NC_000012.10:g.12762232T>C NCBI36
NG_016341.1:g.5664T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.192T>C ENSP00000507272.1:p.Phe64=
ENST00000682620.1:n.1631-794T>C
ENST00000684771.1:n.585-794T>C
ENST00000228872.9:c.192T>C MANE Select ENSP00000228872.4:p.Phe64=
ENST00000228872.8:c.192T>C ENSP00000228872.4:p.Phe64=
ENST00000396340.1:c.192T>C ENSP00000379629.1:p.Phe64=
ENST00000442489.1:c.171T>C ENSP00000407597.1:p.Phe57=
ENST00000477087.1:n.155-794T>C
NM_004064.4:c.192T>C NP_004055.1:p.Phe64=
NM_004064.5:c.192T>C MANE Select NP_004055.1:p.Phe64=