Canonical Allele Identifier: CA6457473

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 307664
• ClinVar RCV Id: RCV000457158 ; RCV000563714 ; RCV001355182 ; RCV001820909 ; RCV003930302
• dbSNP Id: rs142833529
• ExAC: 12:12871129 T / C
• gnomAD v2: 12-12871129-T-C
• gnomAD v3: 12-12718195-T-C
• gnomAD v4: 12-12718195-T-C
• MyVariant Identifiers: chr12:g.12871129T>C (hg19) ; chr12:g.12718195T>C (hg38)
• PubMed: PMID:15026335 ; PMID:15607373 ; PMID:21575944 ; PMID:22291433

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718195T>C , CM000674.2:g.12718195T>C	GRCh38
NC_000012.11:g.12871129T>C , CM000674.1:g.12871129T>C	GRCh37
NC_000012.10:g.12762396T>C	NCBI36
NG_016341.1:g.5828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.356T>C	ENSP00000507272.1:p.Ile119Thr
ENST00000682620.1:n.1631-630T>C
ENST00000684771.1:n.585-630T>C
ENST00000228872.9:c.356T>C MANE Select	ENSP00000228872.4:p.Ile119Thr
ENST00000228872.8:c.356T>C	ENSP00000228872.4:p.Ile119Thr
ENST00000396340.1:c.356T>C	ENSP00000379629.1:p.Ile119Thr
ENST00000442489.1:c.193+142T>C	ENSP00000407597.1:n.193+142T>C
ENST00000477087.1:n.155-630T>C
NM_004064.4:c.356T>C	NP_004055.1:p.Ile119Thr
NM_004064.5:c.356T>C MANE Select	NP_004055.1:p.Ile119Thr