Canonical Allele Identifier: CA274888

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 192361
• ClinVar RCV Id: RCV000172991 ; RCV000240673 ; RCV002516573
• dbSNP Id: rs318240750
• gnomAD v4: 11-2884119-C-A
• MyVariant Identifiers: chr11:g.2905349C>A (hg19) ; chr11:g.2884119C>A (hg38)
• PubMed: PMID:22634751 ; PMID:24624461

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884119C>A , CM000673.2:g.2884119C>A	GRCh38
NC_000011.9:g.2905349C>A , CM000673.1:g.2905349C>A	GRCh37
NC_000011.8:g.2861925C>A	NCBI36
NG_008022.1:g.6647G>T , LRG_533:g.6647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.158G>T
ENST00000380725.2:c.271G>T	ENSP00000370101.1:p.Ala91Ser
ENST00000414822.8:c.836G>T	ENSP00000413720.3:p.Arg279Leu
ENST00000430149.3:c.836G>T	ENSP00000411552.2:p.Arg279Leu
ENST00000440480.8:c.803G>T MANE Select	ENSP00000411257.2:p.Arg268Leu
ENST00000647251.1:c.271G>T	ENSP00000496631.1:p.Ala91Ser
ENST00000380725.1:c.271G>T	ENSP00000370101.1:p.Ala91Ser
ENST00000414822.7:c.836G>T	ENSP00000413720.3:p.Arg279Leu
ENST00000430149.2:c.836G>T	ENSP00000411552.2:p.Arg279Leu
ENST00000440480.6:c.803G>T	ENSP00000411257.2:p.Arg268Leu
ENST00000471157.2:n.583G>T
NM_000076.2:c.836G>T , LRG_533t1:c.836G>T	NP_000067.1:p.Arg279Leu
NM_001122630.1:c.803G>T	NP_001116102.1:p.Arg268Leu
NM_001122631.1:c.803G>T	NP_001116103.1:p.Arg268Leu
XM_005252732.3:c.271G>T	XP_005252789.1:p.Ala91Ser
NM_001362474.1:c.836G>T	NP_001349403.1:p.Arg279Leu
NM_001362475.1:c.271G>T	NP_001349404.1:p.Ala91Ser
NM_001122630.2:c.803G>T MANE Select	NP_001116102.1:p.Arg268Leu
NM_001122631.2:c.803G>T	NP_001116103.1:p.Arg268Leu
NM_001362474.2:c.836G>T	NP_001349403.1:p.Arg279Leu
NM_001362475.2:c.271G>T	NP_001349404.1:p.Ala91Ser