Canonical Allele Identifier: CA478845270
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 706497
dbSNP Id: rs1411622351
MyVariant Identifiers: chr12:g.12870782C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717848C>T , CM000674.2:g.12717848C>T GRCh38
NC_000012.11:g.12870782C>T , CM000674.1:g.12870782C>T GRCh37
NC_000012.10:g.12762049C>T NCBI36
NG_016341.1:g.5481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.9C>T ENSP00000507272.1:p.Asn3=
ENST00000682620.1:n.1631-977C>T
ENST00000684771.1:n.585-977C>T
ENST00000228872.9:c.9C>T MANE Select ENSP00000228872.4:p.Asn3=
ENST00000228872.8:c.9C>T ENSP00000228872.4:p.Asn3=
ENST00000396340.1:c.9C>T ENSP00000379629.1:p.Asn3=
ENST00000477087.1:n.155-977C>T
NM_004064.4:c.9C>T NP_004055.1:p.Asn3=
NM_004064.5:c.9C>T MANE Select NP_004055.1:p.Asn3=