Canonical Allele Identifier: CA352214
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 217127
ClinVar RCV Id: RCV000210352 RCV000229951 RCV000500801 RCV000563908 RCV002225503 RCV003955213
dbSNP Id: rs137985549
ExAC: 12:12871170 C / A
gnomAD v2: 12-12871170-C-A
gnomAD v3: 12-12718236-C-A
gnomAD v4: 12-12718236-C-A
MyVariant Identifiers: chr12:g.12871170C>A (hg19) chr12:g.12718236C>A (hg38)
PubMed: PMID:21289244 PMID:26762354 PMID:27038812 PMID:27153395
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718236C>A , CM000674.2:g.12718236C>A GRCh38
NC_000012.11:g.12871170C>A , CM000674.1:g.12871170C>A GRCh37
NC_000012.10:g.12762437C>A NCBI36
NG_016341.1:g.5869C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.397C>A ENSP00000507272.1:p.Pro133Thr
ENST00000682620.1:n.1631-589C>A
ENST00000684771.1:n.585-589C>A
ENST00000228872.9:c.397C>A MANE Select ENSP00000228872.4:p.Pro133Thr
ENST00000228872.8:c.397C>A ENSP00000228872.4:p.Pro133Thr
ENST00000396340.1:c.397C>A ENSP00000379629.1:p.Pro133Thr
ENST00000442489.1:c.193+183C>A ENSP00000407597.1:n.193+183C>A
ENST00000477087.1:n.155-589C>A
NM_004064.4:c.397C>A NP_004055.1:p.Pro133Thr
NM_004064.5:c.397C>A MANE Select NP_004055.1:p.Pro133Thr
Search 100 bp 5'
Search 100 bp 3'