Canonical Allele Identifier: CA233060323
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 966437
ClinVar RCV Id: RCV001241113 RCV002451588 RCV003405440
dbSNP Id: rs1041108422
gnomAD v2: 12-12871120-C-T
gnomAD v3: 12-12718186-C-T
gnomAD v4: 12-12718186-C-T
MyVariant Identifiers: chr12:g.12871120C>T (hg19) chr12:g.12718186C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718186C>T , CM000674.2:g.12718186C>T GRCh38
NC_000012.11:g.12871120C>T , CM000674.1:g.12871120C>T GRCh37
NC_000012.10:g.12762387C>T NCBI36
NG_016341.1:g.5819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.347C>T ENSP00000507272.1:p.Ala116Val
ENST00000682620.1:n.1631-639C>T
ENST00000684771.1:n.585-639C>T
ENST00000228872.9:c.347C>T MANE Select ENSP00000228872.4:p.Ala116Val
ENST00000228872.8:c.347C>T ENSP00000228872.4:p.Ala116Val
ENST00000396340.1:c.347C>T ENSP00000379629.1:p.Ala116Val
ENST00000442489.1:c.193+133C>T ENSP00000407597.1:n.193+133C>T
ENST00000477087.1:n.155-639C>T
NM_004064.4:c.347C>T NP_004055.1:p.Ala116Val
NM_004064.5:c.347C>T MANE Select NP_004055.1:p.Ala116Val
Search 100 bp 5'
Search 100 bp 3'