Canonical Allele Identifier: CA274859

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 143246
• ClinVar RCV Id: RCV000172924
• dbSNP Id: rs587777866
• MyVariant Identifiers: chr11:g.2905227A>G (hg19) ; chr11:g.2883997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2883997A>G , CM000673.2:g.2883997A>G	GRCh38
NC_000011.9:g.2905227A>G , CM000673.1:g.2905227A>G	GRCh37
NC_000011.8:g.2861803A>G	NCBI36
NG_008022.1:g.6769T>C , LRG_533:g.6769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.278+2T>C
ENST00000380725.2:c.391+2T>C	ENSP00000370101.1:n.391+2T>C
ENST00000414822.8:c.*5+2T>C	ENSP00000413720.3:n.*5+2T>C
ENST00000430149.3:c.*5+2T>C	ENSP00000411552.2:n.*5+2T>C
ENST00000440480.8:c.*5+2T>C MANE Select	ENSP00000411257.2:n.*5+2T>C
ENST00000647251.1:c.391+2T>C	ENSP00000496631.1:n.391+2T>C
ENST00000380725.1:c.391+2T>C	ENSP00000370101.1:n.391+2T>C
ENST00000414822.7:c.*5+2T>C	ENSP00000413720.3:n.*5+2T>C
ENST00000430149.2:c.*5+2T>C	ENSP00000411552.2:n.*5+2T>C
ENST00000440480.6:c.*5+2T>C	ENSP00000411257.2:n.*5+2T>C
ENST00000471157.2:n.703+2T>C
NM_000076.2:c.*5+2T>C , LRG_533t1:c.*5+2T>C	NP_000067.1:n.*5+2T>C
NM_001122630.1:c.*5+2T>C	NP_001116102.1:n.*5+2T>C
NM_001122631.1:c.*5+2T>C	NP_001116103.1:n.*5+2T>C
XM_005252732.3:c.391+2T>C	XP_005252789.1:n.391+2T>C
NM_001362474.1:c.*5+2T>C	NP_001349403.1:n.*5+2T>C
NM_001362475.1:c.391+2T>C	NP_001349404.1:n.391+2T>C
NM_001122630.2:c.*5+2T>C MANE Select	NP_001116102.1:n.*5+2T>C
NM_001122631.2:c.*5+2T>C	NP_001116103.1:n.*5+2T>C
NM_001362474.2:c.*5+2T>C	NP_001349403.1:n.*5+2T>C
NM_001362475.2:c.391+2T>C	NP_001349404.1:n.391+2T>C