Canonical Allele Identifier: CA383968429
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 938347
ClinVar RCV Id: RCV001207546 RCV002447068
dbSNP Id: rs1946487948
gnomAD v4: 12-12717925-G-A
MyVariant Identifiers: chr12:g.12870859G>A (hg19) chr12:g.12717925G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717925G>A , CM000674.2:g.12717925G>A GRCh38
NC_000012.11:g.12870859G>A , CM000674.1:g.12870859G>A GRCh37
NC_000012.10:g.12762126G>A NCBI36
NG_016341.1:g.5558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.86G>A ENSP00000507272.1:p.Cys29Tyr
ENST00000682620.1:n.1631-900G>A
ENST00000684771.1:n.585-900G>A
ENST00000228872.9:c.86G>A MANE Select ENSP00000228872.4:p.Cys29Tyr
ENST00000228872.8:c.86G>A ENSP00000228872.4:p.Cys29Tyr
ENST00000396340.1:c.86G>A ENSP00000379629.1:p.Cys29Tyr
ENST00000442489.1:c.65G>A ENSP00000407597.1:p.Cys22Tyr
ENST00000477087.1:n.155-900G>A
NM_004064.4:c.86G>A NP_004055.1:p.Cys29Tyr
NM_004064.5:c.86G>A MANE Select NP_004055.1:p.Cys29Tyr
Search 100 bp 5'
Search 100 bp 3'