Canonical Allele Identifier: CA342831

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 35532
• ClinVar RCV Id: RCV000029187
• dbSNP Id: rs387907226
• MyVariant Identifiers: chr11:g.2905353T>C (hg19) ; chr11:g.2884123T>C (hg38)
• PubMed: PMID:22634751 ; PMID:24624461 ; PMID:25614875

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884123T>C , CM000673.2:g.2884123T>C	GRCh38
NC_000011.9:g.2905353T>C , CM000673.1:g.2905353T>C	GRCh37
NC_000011.8:g.2861929T>C	NCBI36
NG_008022.1:g.6643A>G , LRG_533:g.6643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.154A>G
ENST00000380725.2:c.267A>G	ENSP00000370101.1:p.Pro89=
ENST00000414822.8:c.832A>G	ENSP00000413720.3:p.Lys278Glu
ENST00000430149.3:c.832A>G	ENSP00000411552.2:p.Lys278Glu
ENST00000440480.8:c.799A>G MANE Select	ENSP00000411257.2:p.Lys267Glu
ENST00000647251.1:c.267A>G	ENSP00000496631.1:p.Pro89=
ENST00000380725.1:c.267A>G	ENSP00000370101.1:p.Pro89=
ENST00000414822.7:c.832A>G	ENSP00000413720.3:p.Lys278Glu
ENST00000430149.2:c.832A>G	ENSP00000411552.2:p.Lys278Glu
ENST00000440480.6:c.799A>G	ENSP00000411257.2:p.Lys267Glu
ENST00000471157.2:n.579A>G
NM_000076.2:c.832A>G , LRG_533t1:c.832A>G	NP_000067.1:p.Lys278Glu
NM_001122630.1:c.799A>G	NP_001116102.1:p.Lys267Glu
NM_001122631.1:c.799A>G	NP_001116103.1:p.Lys267Glu
XM_005252732.3:c.267A>G	XP_005252789.1:p.Pro89=
NM_001362474.1:c.832A>G	NP_001349403.1:p.Lys278Glu
NM_001362475.1:c.267A>G	NP_001349404.1:p.Pro89=
NM_001122630.2:c.799A>G MANE Select	NP_001116102.1:p.Lys267Glu
NM_001122631.2:c.799A>G	NP_001116103.1:p.Lys267Glu
NM_001362474.2:c.832A>G	NP_001349403.1:p.Lys278Glu
NM_001362475.2:c.267A>G	NP_001349404.1:p.Pro89=