Canonical Allele Identifier: CA186090
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 183393
ClinVar RCV Id: RCV000162207 RCV002415708
dbSNP Id: rs777354267
ExAC: 12:12870979 C / T
gnomAD v2: 12-12870979-C-T
gnomAD v3: 12-12718045-C-T
gnomAD v4: 12-12718045-C-T
COSMIC: COSM4384675
MyVariant Identifiers: chr12:g.12870979C>T (hg19) chr12:g.12718045C>T (hg38)
PubMed: PMID:20824794
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718045C>T , CM000674.2:g.12718045C>T GRCh38
NC_000012.11:g.12870979C>T , CM000674.1:g.12870979C>T GRCh37
NC_000012.10:g.12762246C>T NCBI36
NG_016341.1:g.5678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.206C>T ENSP00000507272.1:p.Pro69Leu
ENST00000682620.1:n.1631-780C>T
ENST00000684771.1:n.585-780C>T
ENST00000228872.9:c.206C>T MANE Select ENSP00000228872.4:p.Pro69Leu
ENST00000228872.8:c.206C>T ENSP00000228872.4:p.Pro69Leu
ENST00000396340.1:c.206C>T ENSP00000379629.1:p.Pro69Leu
ENST00000442489.1:c.185C>T ENSP00000407597.1:p.Pro62Leu
ENST00000477087.1:n.155-780C>T
NM_004064.4:c.206C>T NP_004055.1:p.Pro69Leu
NM_004064.5:c.206C>T MANE Select NP_004055.1:p.Pro69Leu
Search 100 bp 5'
Search 100 bp 3'