Canonical Allele Identifier: CA216367471

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 844933
• ClinVar RCV Id: RCV001047905 ; RCV002481939 ; RCV003145290
• dbSNP Id: rs956525226
• gnomAD v2: 11-2906590-G-A
• gnomAD v3: 11-2885360-G-A
• gnomAD v4: 11-2885360-G-A
• MyVariant Identifiers: chr11:g.2906590G>A (hg19) ; chr11:g.2885360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885360G>A , CM000673.2:g.2885360G>A	GRCh38
NC_000011.9:g.2906590G>A , CM000673.1:g.2906590G>A	GRCh37
NC_000011.8:g.2863166G>A	NCBI36
NG_008022.1:g.5406C>T , LRG_533:g.5406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681969.1:n.142+274C>T
ENST00000380725.2:c.97C>T	ENSP00000370101.1:p.Arg33Cys
ENST00000414822.8:c.130C>T	ENSP00000413720.3:p.Arg44Cys
ENST00000430149.3:c.130C>T	ENSP00000411552.2:p.Arg44Cys
ENST00000440480.8:c.97C>T MANE Select	ENSP00000411257.2:p.Arg33Cys
ENST00000647251.1:c.97C>T	ENSP00000496631.1:p.Arg33Cys
ENST00000380725.1:c.97C>T	ENSP00000370101.1:p.Arg33Cys
ENST00000414822.7:c.130C>T	ENSP00000413720.3:p.Arg44Cys
ENST00000430149.2:c.130C>T	ENSP00000411552.2:p.Arg44Cys
ENST00000440480.6:c.97C>T	ENSP00000411257.2:p.Arg33Cys
NM_000076.2:c.130C>T , LRG_533t1:c.130C>T	NP_000067.1:p.Arg44Cys
NM_001122630.1:c.97C>T	NP_001116102.1:p.Arg33Cys
NM_001122631.1:c.97C>T	NP_001116103.1:p.Arg33Cys
XM_005252732.3:c.97C>T	XP_005252789.1:p.Arg33Cys
NM_001362474.1:c.130C>T	NP_001349403.1:p.Arg44Cys
NM_001362475.1:c.97C>T	NP_001349404.1:p.Arg33Cys
NM_001122630.2:c.97C>T MANE Select	NP_001116102.1:p.Arg33Cys
NM_001122631.2:c.97C>T	NP_001116103.1:p.Arg33Cys
NM_001362474.2:c.130C>T	NP_001349403.1:p.Arg44Cys
NM_001362475.2:c.97C>T	NP_001349404.1:p.Arg33Cys