Canonical Allele Identifier: CA383970120
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1897488
ClinVar RCV Id: RCV002572395
dbSNP Id: rs1555085583
MyVariant Identifiers: chr12:g.12871073G>C (hg19) chr12:g.12718139G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718139G>C , CM000674.2:g.12718139G>C GRCh38
NC_000012.11:g.12871073G>C , CM000674.1:g.12871073G>C GRCh37
NC_000012.10:g.12762340G>C NCBI36
NG_016341.1:g.5772G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.300G>C ENSP00000507272.1:p.Lys100Asn
ENST00000682620.1:n.1631-686G>C
ENST00000684771.1:n.585-686G>C
ENST00000228872.9:c.300G>C MANE Select ENSP00000228872.4:p.Lys100Asn
ENST00000228872.8:c.300G>C ENSP00000228872.4:p.Lys100Asn
ENST00000396340.1:c.300G>C ENSP00000379629.1:p.Lys100Asn
ENST00000442489.1:c.193+86G>C ENSP00000407597.1:n.193+86G>C
ENST00000477087.1:n.155-686G>C
NM_004064.4:c.300G>C NP_004055.1:p.Lys100Asn
NM_004064.5:c.300G>C MANE Select NP_004055.1:p.Lys100Asn
Search 100 bp 5'
Search 100 bp 3'