Canonical Allele Identifier: CA478845454

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1647348
• ClinVar RCV Id: RCV002153697 ; RCV002255732
• dbSNP Id: rs2136355548
• gnomAD v4: 12-12717941-C-T
• MyVariant Identifiers: chr12:g.12870875C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717941C>T , CM000674.2:g.12717941C>T	GRCh38
NC_000012.11:g.12870875C>T , CM000674.1:g.12870875C>T	GRCh37
NC_000012.10:g.12762142C>T	NCBI36
NG_016341.1:g.5574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.102C>T	ENSP00000507272.1:p.Gly34=
ENST00000682620.1:n.1631-884C>T
ENST00000684771.1:n.585-884C>T
ENST00000228872.9:c.102C>T MANE Select	ENSP00000228872.4:p.Gly34=
ENST00000228872.8:c.102C>T	ENSP00000228872.4:p.Gly34=
ENST00000396340.1:c.102C>T	ENSP00000379629.1:p.Gly34=
ENST00000442489.1:c.81C>T	ENSP00000407597.1:p.Gly27=
ENST00000477087.1:n.155-884C>T
NM_004064.4:c.102C>T	NP_004055.1:p.Gly34=
NM_004064.5:c.102C>T MANE Select	NP_004055.1:p.Gly34=