Canonical Allele Identifier: CA6457384
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 307660
ClinVar RCV Id: RCV000319383 RCV001010384
dbSNP Id: rs758843248
ExAC: 12:12870894 T / C
gnomAD v2: 12-12870894-T-C
gnomAD v3: 12-12717960-T-C
gnomAD v4: 12-12717960-T-C
MyVariant Identifiers: chr12:g.12870894T>C (hg19) chr12:g.12717960T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717960T>C , CM000674.2:g.12717960T>C GRCh38
NC_000012.11:g.12870894T>C , CM000674.1:g.12870894T>C GRCh37
NC_000012.10:g.12762161T>C NCBI36
NG_016341.1:g.5593T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.121T>C ENSP00000507272.1:p.Leu41=
ENST00000682620.1:n.1631-865T>C
ENST00000684771.1:n.585-865T>C
ENST00000228872.9:c.121T>C MANE Select ENSP00000228872.4:p.Leu41=
ENST00000228872.8:c.121T>C ENSP00000228872.4:p.Leu41=
ENST00000396340.1:c.121T>C ENSP00000379629.1:p.Leu41=
ENST00000442489.1:c.100T>C ENSP00000407597.1:p.Leu34=
ENST00000477087.1:n.155-865T>C
NM_004064.4:c.121T>C NP_004055.1:p.Leu41=
NM_004064.5:c.121T>C MANE Select NP_004055.1:p.Leu41=
Search 100 bp 5'
Search 100 bp 3'