Canonical Allele Identifier: CA2612013741

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 3009890
• ClinVar RCV Id: RCV003865001
• gnomAD v4: 11-2884148-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884148C>A , CM000673.2:g.2884148C>A	GRCh38
NC_000011.9:g.2905378C>A , CM000673.1:g.2905378C>A	GRCh37
NC_000011.8:g.2861954C>A	NCBI36
NG_008022.1:g.6618G>T , LRG_533:g.6618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.143-14G>T
ENST00000380725.2:c.256-14G>T	ENSP00000370101.1:n.256-14G>T
ENST00000414822.8:c.821-14G>T	ENSP00000413720.3:n.821-14G>T
ENST00000430149.3:c.821-14G>T	ENSP00000411552.2:n.821-14G>T
ENST00000440480.8:c.788-14G>T MANE Select	ENSP00000411257.2:n.788-14G>T
ENST00000647251.1:c.256-14G>T	ENSP00000496631.1:n.256-14G>T
ENST00000380725.1:c.256-14G>T	ENSP00000370101.1:n.256-14G>T
ENST00000414822.7:c.821-14G>T	ENSP00000413720.3:n.821-14G>T
ENST00000430149.2:c.821-14G>T	ENSP00000411552.2:n.821-14G>T
ENST00000440480.6:c.788-14G>T	ENSP00000411257.2:n.788-14G>T
ENST00000471157.2:n.554G>T
NM_000076.2:c.821-14G>T , LRG_533t1:c.821-14G>T	NP_000067.1:n.821-14G>T
NM_001122630.1:c.788-14G>T	NP_001116102.1:n.788-14G>T
NM_001122631.1:c.788-14G>T	NP_001116103.1:n.788-14G>T
XM_005252732.3:c.256-14G>T	XP_005252789.1:n.256-14G>T
NM_001362474.1:c.821-14G>T	NP_001349403.1:n.821-14G>T
NM_001362475.1:c.256-14G>T	NP_001349404.1:n.256-14G>T
NM_001122630.2:c.788-14G>T MANE Select	NP_001116102.1:n.788-14G>T
NM_001122631.2:c.788-14G>T	NP_001116103.1:n.788-14G>T
NM_001362474.2:c.821-14G>T	NP_001349403.1:n.821-14G>T
NM_001362475.2:c.256-14G>T	NP_001349404.1:n.256-14G>T