Canonical Allele Identifier: CA5822222

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 524709
• ClinVar RCV Id: RCV000628559 ; RCV001766334 ; RCV002533164 ; RCV002499021
• dbSNP Id: rs750526402
• ExAC: 11:2906494 G / A
• gnomAD v2: 11-2906494-G-A
• gnomAD v3: 11-2885264-G-A
• gnomAD v4: 11-2885264-G-A
• MyVariant Identifiers: chr11:g.2906494G>A (hg19) ; chr11:g.2885264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885264G>A , CM000673.2:g.2885264G>A	GRCh38
NC_000011.9:g.2906494G>A , CM000673.1:g.2906494G>A	GRCh37
NC_000011.8:g.2863070G>A	NCBI36
NG_008022.1:g.5502C>T , LRG_533:g.5502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+370C>T
ENST00000380725.2:c.193C>T	ENSP00000370101.1:p.Arg65Cys
ENST00000414822.8:c.226C>T	ENSP00000413720.3:p.Arg76Cys
ENST00000430149.3:c.226C>T	ENSP00000411552.2:p.Arg76Cys
ENST00000440480.8:c.193C>T MANE Select	ENSP00000411257.2:p.Arg65Cys
ENST00000647251.1:c.193C>T	ENSP00000496631.1:p.Arg65Cys
ENST00000380725.1:c.193C>T	ENSP00000370101.1:p.Arg65Cys
ENST00000414822.7:c.226C>T	ENSP00000413720.3:p.Arg76Cys
ENST00000430149.2:c.226C>T	ENSP00000411552.2:p.Arg76Cys
ENST00000440480.6:c.193C>T	ENSP00000411257.2:p.Arg65Cys
NM_000076.2:c.226C>T , LRG_533t1:c.226C>T	NP_000067.1:p.Arg76Cys
NM_001122630.1:c.193C>T	NP_001116102.1:p.Arg65Cys
NM_001122631.1:c.193C>T	NP_001116103.1:p.Arg65Cys
XM_005252732.3:c.193C>T	XP_005252789.1:p.Arg65Cys
NM_001362474.1:c.226C>T	NP_001349403.1:p.Arg76Cys
NM_001362475.1:c.193C>T	NP_001349404.1:p.Arg65Cys
NM_001122630.2:c.193C>T MANE Select	NP_001116102.1:p.Arg65Cys
NM_001122631.2:c.193C>T	NP_001116103.1:p.Arg65Cys
NM_001362474.2:c.226C>T	NP_001349403.1:p.Arg76Cys
NM_001362475.2:c.193C>T	NP_001349404.1:p.Arg65Cys