Canonical Allele Identifier: CA2580085214

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2450788
• ClinVar RCV Id: RCV003171504
• gnomAD v4: 12-12718319-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718319T>A , CM000674.2:g.12718319T>A	GRCh38
NC_000012.11:g.12871253T>A , CM000674.1:g.12871253T>A	GRCh37
NC_000012.10:g.12762520T>A	NCBI36
NG_016341.1:g.5952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+5T>A	ENSP00000507272.1:n.475+5T>A
ENST00000682620.1:n.1631-506T>A
ENST00000684771.1:n.585-506T>A
ENST00000228872.9:c.475+5T>A MANE Select	ENSP00000228872.4:n.475+5T>A
ENST00000228872.8:c.475+5T>A	ENSP00000228872.4:n.475+5T>A
ENST00000396340.1:c.475+5T>A	ENSP00000379629.1:n.475+5T>A
ENST00000442489.1:c.193+266T>A	ENSP00000407597.1:n.193+266T>A
ENST00000477087.1:n.155-506T>A
NM_004064.4:c.475+5T>A	NP_004055.1:n.475+5T>A
NM_004064.5:c.475+5T>A MANE Select	NP_004055.1:n.475+5T>A