Canonical Allele Identifier: CA383970800
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1740448
ClinVar RCV Id: RCV002333867
dbSNP Id: rs1244947949
MyVariant Identifiers: chr12:g.12871214A>C (hg19) chr12:g.12718280A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718280A>C , CM000674.2:g.12718280A>C GRCh38
NC_000012.11:g.12871214A>C , CM000674.1:g.12871214A>C GRCh37
NC_000012.10:g.12762481A>C NCBI36
NG_016341.1:g.5913A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.441A>C ENSP00000507272.1:p.Gln147His
ENST00000682620.1:n.1631-545A>C
ENST00000684771.1:n.585-545A>C
ENST00000228872.9:c.441A>C MANE Select ENSP00000228872.4:p.Gln147His
ENST00000228872.8:c.441A>C ENSP00000228872.4:p.Gln147His
ENST00000396340.1:c.441A>C ENSP00000379629.1:p.Gln147His
ENST00000442489.1:c.193+227A>C ENSP00000407597.1:n.193+227A>C
ENST00000477087.1:n.155-545A>C
NM_004064.4:c.441A>C NP_004055.1:p.Gln147His
NM_004064.5:c.441A>C MANE Select NP_004055.1:p.Gln147His
Search 100 bp 5'
Search 100 bp 3'