Canonical Allele Identifier: CA6457370
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1117692
ClinVar RCV Id: RCV001446499 RCV002341983
dbSNP Id: rs775058606
ExAC: 12:12870818 G / C
gnomAD v2: 12-12870818-G-C
gnomAD v4: 12-12717884-G-C
MyVariant Identifiers: chr12:g.12870818G>C (hg19) chr12:g.12717884G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717884G>C , CM000674.2:g.12717884G>C GRCh38
NC_000012.11:g.12870818G>C , CM000674.1:g.12870818G>C GRCh37
NC_000012.10:g.12762085G>C NCBI36
NG_016341.1:g.5517G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.45G>C ENSP00000507272.1:p.Arg15=
ENST00000682620.1:n.1631-941G>C
ENST00000684771.1:n.585-941G>C
ENST00000228872.9:c.45G>C MANE Select ENSP00000228872.4:p.Arg15=
ENST00000228872.8:c.45G>C ENSP00000228872.4:p.Arg15=
ENST00000396340.1:c.45G>C ENSP00000379629.1:p.Arg15=
ENST00000442489.1:c.24G>C ENSP00000407597.1:p.Arg8=
ENST00000477087.1:n.155-941G>C
NM_004064.4:c.45G>C NP_004055.1:p.Arg15=
NM_004064.5:c.45G>C MANE Select NP_004055.1:p.Arg15=
Search 100 bp 5'
Search 100 bp 3'