Canonical Allele Identifier: CA6457392

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1123863
• ClinVar RCV Id: RCV001455024 ; RCV002396059
• dbSNP Id: rs747742623
• ExAC: 12:12870920 C / T
• gnomAD v2: 12-12870920-C-T
• gnomAD v3: 12-12717986-C-T
• gnomAD v4: 12-12717986-C-T
• MyVariant Identifiers: chr12:g.12870920C>T (hg19) ; chr12:g.12717986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717986C>T , CM000674.2:g.12717986C>T	GRCh38
NC_000012.11:g.12870920C>T , CM000674.1:g.12870920C>T	GRCh37
NC_000012.10:g.12762187C>T	NCBI36
NG_016341.1:g.5619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.147C>T	ENSP00000507272.1:p.Cys49=
ENST00000682620.1:n.1631-839C>T
ENST00000684771.1:n.585-839C>T
ENST00000228872.9:c.147C>T MANE Select	ENSP00000228872.4:p.Cys49=
ENST00000228872.8:c.147C>T	ENSP00000228872.4:p.Cys49=
ENST00000396340.1:c.147C>T	ENSP00000379629.1:p.Cys49=
ENST00000442489.1:c.126C>T	ENSP00000407597.1:p.Cys42=
ENST00000477087.1:n.155-839C>T
NM_004064.4:c.147C>T	NP_004055.1:p.Cys49=
NM_004064.5:c.147C>T MANE Select	NP_004055.1:p.Cys49=