Canonical Allele Identifier: CA383969522
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 469006
ClinVar RCV Id: RCV000539742
dbSNP Id: rs1337857330
gnomAD v4: 12-12718050-G-A
COSMIC: COSM4534776
MyVariant Identifiers: chr12:g.12870984G>A (hg19) chr12:g.12718050G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718050G>A , CM000674.2:g.12718050G>A GRCh38
NC_000012.11:g.12870984G>A , CM000674.1:g.12870984G>A GRCh37
NC_000012.10:g.12762251G>A NCBI36
NG_016341.1:g.5683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.211G>A ENSP00000507272.1:p.Glu71Lys
ENST00000682620.1:n.1631-775G>A
ENST00000684771.1:n.585-775G>A
ENST00000228872.9:c.211G>A MANE Select ENSP00000228872.4:p.Glu71Lys
ENST00000228872.8:c.211G>A ENSP00000228872.4:p.Glu71Lys
ENST00000396340.1:c.211G>A ENSP00000379629.1:p.Glu71Lys
ENST00000442489.1:c.190G>A ENSP00000407597.1:p.Glu64Lys
ENST00000477087.1:n.155-775G>A
NM_004064.4:c.211G>A NP_004055.1:p.Glu71Lys
NM_004064.5:c.211G>A MANE Select NP_004055.1:p.Glu71Lys
Search 100 bp 5'
Search 100 bp 3'