Canonical Allele Identifier: CA379147992

Gene: CDKN1C

Linked Data

• ClinVar Variation Id: 580302
• ClinVar RCV Id: RCV000703792 ; RCV003483712
• dbSNP Id: rs1564930879
• gnomAD v4: 11-2885459-T-C
• MyVariant Identifiers: chr11:g.2906689T>C (hg19) ; chr11:g.2885459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2885459T>C , CM000673.2:g.2885459T>C	GRCh38
NC_000011.9:g.2906689T>C , CM000673.1:g.2906689T>C	GRCh37
NC_000011.8:g.2863265T>C	NCBI36
NG_008022.1:g.5307A>G , LRG_533:g.5307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681969.1:n.142+175A>G
ENST00000380725.2:c.-3A>G	ENSP00000370101.1:n.-3A>G
ENST00000414822.8:c.31A>G	ENSP00000413720.3:p.Thr11Ala
ENST00000430149.3:c.31A>G	ENSP00000411552.2:p.Thr11Ala
ENST00000440480.8:c.-3A>G MANE Select	ENSP00000411257.2:n.-3A>G
ENST00000647251.1:c.-3A>G	ENSP00000496631.1:n.-3A>G
ENST00000380725.1:c.-3A>G	ENSP00000370101.1:n.-3A>G
ENST00000414822.7:c.31A>G	ENSP00000413720.3:p.Thr11Ala
ENST00000430149.2:c.31A>G	ENSP00000411552.2:p.Thr11Ala
ENST00000440480.6:c.-3A>G	ENSP00000411257.2:n.-3A>G
NM_000076.2:c.31A>G , LRG_533t1:c.31A>G	NP_000067.1:p.Thr11Ala
NM_001122630.1:c.-3A>G	NP_001116102.1:n.-3A>G
NM_001122631.1:c.-3A>G	NP_001116103.1:n.-3A>G
XM_005252732.3:c.-3A>G	XP_005252789.1:n.-3A>G
NM_001362474.1:c.31A>G	NP_001349403.1:p.Thr11Ala
NM_001362475.1:c.-3A>G	NP_001349404.1:n.-3A>G
NM_001122630.2:c.-3A>G MANE Select	NP_001116102.1:n.-3A>G
NM_001122631.2:c.-3A>G	NP_001116103.1:n.-3A>G
NM_001362474.2:c.31A>G	NP_001349403.1:p.Thr11Ala
NM_001362475.2:c.-3A>G	NP_001349404.1:n.-3A>G