Canonical Allele Identifier: CA383969094
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 648766
ClinVar RCV Id: RCV001012410 RCV000803568 RCV003478503
dbSNP Id: rs1275755910
gnomAD v2: 12-12870933-G-C
gnomAD v3: 12-12717999-G-C
gnomAD v4: 12-12717999-G-C
MyVariant Identifiers: chr12:g.12870933G>C (hg19) chr12:g.12717999G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717999G>C , CM000674.2:g.12717999G>C GRCh38
NC_000012.11:g.12870933G>C , CM000674.1:g.12870933G>C GRCh37
NC_000012.10:g.12762200G>C NCBI36
NG_016341.1:g.5632G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.160G>C ENSP00000507272.1:p.Glu54Gln
ENST00000682620.1:n.1631-826G>C
ENST00000684771.1:n.585-826G>C
ENST00000228872.9:c.160G>C MANE Select ENSP00000228872.4:p.Glu54Gln
ENST00000228872.8:c.160G>C ENSP00000228872.4:p.Glu54Gln
ENST00000396340.1:c.160G>C ENSP00000379629.1:p.Glu54Gln
ENST00000442489.1:c.139G>C ENSP00000407597.1:p.Glu47Gln
ENST00000477087.1:n.155-826G>C
NM_004064.4:c.160G>C NP_004055.1:p.Glu54Gln
NM_004064.5:c.160G>C MANE Select NP_004055.1:p.Glu54Gln
Search 100 bp 5'
Search 100 bp 3'