Canonical Allele Identifier: CA383967915
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 838842
ClinVar RCV Id: RCV001040473 RCV002391116
dbSNP Id: rs1408164050
gnomAD v2: 12-12870787-G-A
gnomAD v3: 12-12717853-G-A
gnomAD v4: 12-12717853-G-A
MyVariant Identifiers: chr12:g.12870787G>A (hg19) chr12:g.12717853G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717853G>A , CM000674.2:g.12717853G>A GRCh38
NC_000012.11:g.12870787G>A , CM000674.1:g.12870787G>A GRCh37
NC_000012.10:g.12762054G>A NCBI36
NG_016341.1:g.5486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.14G>A ENSP00000507272.1:p.Arg5Gln
ENST00000682620.1:n.1631-972G>A
ENST00000684771.1:n.585-972G>A
ENST00000228872.9:c.14G>A MANE Select ENSP00000228872.4:p.Arg5Gln
ENST00000228872.8:c.14G>A ENSP00000228872.4:p.Arg5Gln
ENST00000396340.1:c.14G>A ENSP00000379629.1:p.Arg5Gln
ENST00000477087.1:n.155-972G>A
NM_004064.4:c.14G>A NP_004055.1:p.Arg5Gln
NM_004064.5:c.14G>A MANE Select NP_004055.1:p.Arg5Gln
Search 100 bp 5'
Search 100 bp 3'