Canonical Allele Identifier: CA5822206

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 454022
• ClinVar RCV Id: RCV000529614 ; RCV003144310
• dbSNP Id: rs767656648
• ExAC: 11:2906090 G / C
• gnomAD v2: 11-2906090-G-C
• gnomAD v3: 11-2884860-G-C
• gnomAD v4: 11-2884860-G-C
• COSMIC: COSM5469107
• MyVariant Identifiers: chr11:g.2906090G>C (hg19) ; chr11:g.2906090_2906102delinsCGGGGCCGGGGCC (hg19) ; chr11:g.2884860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884860G>C , CM000673.2:g.2884860G>C	GRCh38
NC_000011.9:g.2906090G>C , CM000673.1:g.2906090G>C	GRCh37
NC_000011.8:g.2862666G>C	NCBI36
NG_008022.1:g.5906C>G , LRG_533:g.5906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-726C>G
ENST00000380725.2:c.255+342C>G	ENSP00000370101.1:n.255+342C>G
ENST00000414822.8:c.630C>G	ENSP00000413720.3:p.Pro210=
ENST00000430149.3:c.630C>G	ENSP00000411552.2:p.Pro210=
ENST00000440480.8:c.597C>G MANE Select	ENSP00000411257.2:p.Pro199=
ENST00000647251.1:c.255+342C>G	ENSP00000496631.1:n.255+342C>G
ENST00000380725.1:c.255+342C>G	ENSP00000370101.1:n.255+342C>G
ENST00000414822.7:c.630C>G	ENSP00000413720.3:p.Pro210=
ENST00000430149.2:c.630C>G	ENSP00000411552.2:p.Pro210=
ENST00000440480.6:c.597C>G	ENSP00000411257.2:p.Pro199=
NM_000076.2:c.630C>G , LRG_533t1:c.630C>G	NP_000067.1:p.Pro210=
NM_001122630.1:c.597C>G	NP_001116102.1:p.Pro199=
NM_001122631.1:c.597C>G	NP_001116103.1:p.Pro199=
XM_005252732.3:c.255+342C>G	XP_005252789.1:n.255+342C>G
NM_001362474.1:c.630C>G	NP_001349403.1:p.Pro210=
NM_001362475.1:c.255+342C>G	NP_001349404.1:n.255+342C>G
NM_001122630.2:c.597C>G MANE Select	NP_001116102.1:p.Pro199=
NM_001122631.2:c.597C>G	NP_001116103.1:p.Pro199=
NM_001362474.2:c.630C>G	NP_001349403.1:p.Pro210=
NM_001362475.2:c.255+342C>G	NP_001349404.1:n.255+342C>G