Canonical Allele Identifier: CA6457495

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 239622
• ClinVar RCV Id: RCV000227466 ; RCV000249781 ; RCV000857943 ; RCV000572941
• dbSNP Id: rs149775942
• ExAC: 12:12871199 G / A
• gnomAD v2: 12-12871199-G-A
• gnomAD v3: 12-12718265-G-A
• gnomAD v4: 12-12718265-G-A
• MyVariant Identifiers: chr12:g.12871199G>A (hg19) ; chr12:g.12718265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718265G>A , CM000674.2:g.12718265G>A	GRCh38
NC_000012.11:g.12871199G>A , CM000674.1:g.12871199G>A	GRCh37
NC_000012.10:g.12762466G>A	NCBI36
NG_016341.1:g.5898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.426G>A	ENSP00000507272.1:p.Thr142=
ENST00000682620.1:n.1631-560G>A
ENST00000684771.1:n.585-560G>A
ENST00000228872.9:c.426G>A MANE Select	ENSP00000228872.4:p.Thr142=
ENST00000228872.8:c.426G>A	ENSP00000228872.4:p.Thr142=
ENST00000396340.1:c.426G>A	ENSP00000379629.1:p.Thr142=
ENST00000442489.1:c.193+212G>A	ENSP00000407597.1:n.193+212G>A
ENST00000477087.1:n.155-560G>A
NM_004064.4:c.426G>A	NP_004055.1:p.Thr142=
NM_004064.5:c.426G>A MANE Select	NP_004055.1:p.Thr142=