Canonical Allele Identifier: CA383969548
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 820737
ClinVar RCV Id: RCV001014487 RCV001860763
dbSNP Id: rs1280938448
gnomAD v2: 12-12870988-G-A
gnomAD v4: 12-12718054-G-A
COSMIC: COSM1360001
MyVariant Identifiers: chr12:g.12870988G>A (hg19) chr12:g.12718054G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718054G>A , CM000674.2:g.12718054G>A GRCh38
NC_000012.11:g.12870988G>A , CM000674.1:g.12870988G>A GRCh37
NC_000012.10:g.12762255G>A NCBI36
NG_016341.1:g.5687G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.215G>A ENSP00000507272.1:p.Gly72Asp
ENST00000682620.1:n.1631-771G>A
ENST00000684771.1:n.585-771G>A
ENST00000228872.9:c.215G>A MANE Select ENSP00000228872.4:p.Gly72Asp
ENST00000228872.8:c.215G>A ENSP00000228872.4:p.Gly72Asp
ENST00000396340.1:c.215G>A ENSP00000379629.1:p.Gly72Asp
ENST00000442489.1:c.193+1G>A ENSP00000407597.1:n.193+1G>A
ENST00000477087.1:n.155-771G>A
NM_004064.4:c.215G>A NP_004055.1:p.Gly72Asp
NM_004064.5:c.215G>A MANE Select NP_004055.1:p.Gly72Asp
Search 100 bp 5'
Search 100 bp 3'