Canonical Allele Identifier: CA233060432

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 485503
• ClinVar RCV Id: RCV000562236 ; RCV001417047
• dbSNP Id: rs878854622
• gnomAD v2: 12-12871157-G-A
• gnomAD v4: 12-12718223-G-A
• MyVariant Identifiers: chr12:g.12871157G>A (hg19) ; chr12:g.12718223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718223G>A , CM000674.2:g.12718223G>A	GRCh38
NC_000012.11:g.12871157G>A , CM000674.1:g.12871157G>A	GRCh37
NC_000012.10:g.12762424G>A	NCBI36
NG_016341.1:g.5856G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.384G>A	ENSP00000507272.1:p.Thr128=
ENST00000682620.1:n.1631-602G>A
ENST00000684771.1:n.585-602G>A
ENST00000228872.9:c.384G>A MANE Select	ENSP00000228872.4:p.Thr128=
ENST00000228872.8:c.384G>A	ENSP00000228872.4:p.Thr128=
ENST00000396340.1:c.384G>A	ENSP00000379629.1:p.Thr128=
ENST00000442489.1:c.193+170G>A	ENSP00000407597.1:n.193+170G>A
ENST00000477087.1:n.155-602G>A
NM_004064.4:c.384G>A	NP_004055.1:p.Thr128=
NM_004064.5:c.384G>A MANE Select	NP_004055.1:p.Thr128=