Canonical Allele Identifier: CA478845619
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 749361
ClinVar RCV Id: RCV000926231 RCV002454105
dbSNP Id: rs1365789536
gnomAD v2: 12-12871121-G-A
gnomAD v3: 12-12718187-G-A
gnomAD v4: 12-12718187-G-A
MyVariant Identifiers: chr12:g.12871121G>A (hg19) chr12:g.12718187G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718187G>A , CM000674.2:g.12718187G>A GRCh38
NC_000012.11:g.12871121G>A , CM000674.1:g.12871121G>A GRCh37
NC_000012.10:g.12762388G>A NCBI36
NG_016341.1:g.5820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.348G>A ENSP00000507272.1:p.Ala116=
ENST00000682620.1:n.1631-638G>A
ENST00000684771.1:n.585-638G>A
ENST00000228872.9:c.348G>A MANE Select ENSP00000228872.4:p.Ala116=
ENST00000228872.8:c.348G>A ENSP00000228872.4:p.Ala116=
ENST00000396340.1:c.348G>A ENSP00000379629.1:p.Ala116=
ENST00000442489.1:c.193+134G>A ENSP00000407597.1:n.193+134G>A
ENST00000477087.1:n.155-638G>A
NM_004064.4:c.348G>A NP_004055.1:p.Ala116=
NM_004064.5:c.348G>A MANE Select NP_004055.1:p.Ala116=
Search 100 bp 5'
Search 100 bp 3'