Canonical Allele Identifier: CA6457393
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 485500
ClinVar RCV Id: RCV000566301 RCV001217216 RCV002268199
dbSNP Id: rs771913043
ExAC: 12:12870922 G / A
gnomAD v2: 12-12870922-G-A
gnomAD v3: 12-12717988-G-A
gnomAD v4: 12-12717988-G-A
MyVariant Identifiers: chr12:g.12870922G>A (hg19) chr12:g.12717988G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717988G>A , CM000674.2:g.12717988G>A GRCh38
NC_000012.11:g.12870922G>A , CM000674.1:g.12870922G>A GRCh37
NC_000012.10:g.12762189G>A NCBI36
NG_016341.1:g.5621G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.149G>A ENSP00000507272.1:p.Arg50Lys
ENST00000682620.1:n.1631-837G>A
ENST00000684771.1:n.585-837G>A
ENST00000228872.9:c.149G>A MANE Select ENSP00000228872.4:p.Arg50Lys
ENST00000228872.8:c.149G>A ENSP00000228872.4:p.Arg50Lys
ENST00000396340.1:c.149G>A ENSP00000379629.1:p.Arg50Lys
ENST00000442489.1:c.128G>A ENSP00000407597.1:p.Arg43Lys
ENST00000477087.1:n.155-837G>A
NM_004064.4:c.149G>A NP_004055.1:p.Arg50Lys
NM_004064.5:c.149G>A MANE Select NP_004055.1:p.Arg50Lys
Search 100 bp 5'
Search 100 bp 3'