Canonical Allele Identifier: CA379144651

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 524732
• ClinVar RCV Id: RCV000628586
• dbSNP Id: rs1363802623
• gnomAD v2: 11-2905235-C-T
• gnomAD v3: 11-2884005-C-T
• gnomAD v4: 11-2884005-C-T
• MyVariant Identifiers: chr11:g.2905235C>T (hg19) ; chr11:g.2884005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2884005C>T , CM000673.2:g.2884005C>T	GRCh38
NC_000011.9:g.2905235C>T , CM000673.1:g.2905235C>T	GRCh37
NC_000011.8:g.2861811C>T	NCBI36
NG_008022.1:g.6761G>A , LRG_533:g.6761G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681969.1:n.272G>A
ENST00000380725.2:c.385G>A	ENSP00000370101.1:p.Glu129Lys
ENST00000414822.8:c.950G>A	ENSP00000413720.3:p.Ter317=
ENST00000430149.3:c.950G>A	ENSP00000411552.2:p.Ter317=
ENST00000440480.8:c.917G>A MANE Select	ENSP00000411257.2:p.Ter306=
ENST00000647251.1:c.385G>A	ENSP00000496631.1:p.Glu129Lys
ENST00000380725.1:c.385G>A	ENSP00000370101.1:p.Glu129Lys
ENST00000414822.7:c.950G>A	ENSP00000413720.3:p.Ter317=
ENST00000430149.2:c.950G>A	ENSP00000411552.2:p.Ter317=
ENST00000440480.6:c.917G>A	ENSP00000411257.2:p.Ter306=
ENST00000471157.2:n.697G>A
NM_000076.2:c.950G>A , LRG_533t1:c.950G>A	NP_000067.1:p.Ter317=
NM_001122630.1:c.917G>A	NP_001116102.1:p.Ter306=
NM_001122631.1:c.917G>A	NP_001116103.1:p.Ter306=
XM_005252732.3:c.385G>A	XP_005252789.1:p.Glu129Lys
NM_001362474.1:c.950G>A	NP_001349403.1:p.Ter317=
NM_001362475.1:c.385G>A	NP_001349404.1:p.Glu129Lys
NM_001122630.2:c.917G>A MANE Select	NP_001116102.1:p.Ter306=
NM_001122631.2:c.917G>A	NP_001116103.1:p.Ter306=
NM_001362474.2:c.950G>A	NP_001349403.1:p.Ter317=
NM_001362475.2:c.385G>A	NP_001349404.1:p.Glu129Lys