Canonical Allele Identifier: CA379146276
Gene: CDKN1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2884871C>G , CM000673.2:g.2884871C>G GRCh38
NC_000011.9:g.2906101C>G , CM000673.1:g.2906101C>G GRCh37
NC_000011.8:g.2862677C>G NCBI36
NG_008022.1:g.5895G>C , LRG_533:g.5895G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681969.1:n.143-737G>C
ENST00000380725.2:c.255+331G>C ENSP00000370101.1:n.255+331G>C
ENST00000414822.8:c.619G>C ENSP00000413720.3:p.Ala207Pro
ENST00000430149.3:c.619G>C ENSP00000411552.2:p.Ala207Pro
ENST00000440480.8:c.586G>C MANE Select ENSP00000411257.2:p.Ala196Pro
ENST00000647251.1:c.255+331G>C ENSP00000496631.1:n.255+331G>C
ENST00000380725.1:c.255+331G>C ENSP00000370101.1:n.255+331G>C
ENST00000414822.7:c.619G>C ENSP00000413720.3:p.Ala207Pro
ENST00000430149.2:c.619G>C ENSP00000411552.2:p.Ala207Pro
ENST00000440480.6:c.586G>C ENSP00000411257.2:p.Ala196Pro
NM_000076.2:c.619G>C , LRG_533t1:c.619G>C NP_000067.1:p.Ala207Pro
NM_001122630.1:c.586G>C NP_001116102.1:p.Ala196Pro
NM_001122631.1:c.586G>C NP_001116103.1:p.Ala196Pro
XM_005252732.3:c.255+331G>C XP_005252789.1:n.255+331G>C
NM_001362474.1:c.619G>C NP_001349403.1:p.Ala207Pro
NM_001362475.1:c.255+331G>C NP_001349404.1:n.255+331G>C
NM_001122630.2:c.586G>C MANE Select NP_001116102.1:p.Ala196Pro
NM_001122631.2:c.586G>C NP_001116103.1:p.Ala196Pro
NM_001362474.2:c.619G>C NP_001349403.1:p.Ala207Pro
NM_001362475.2:c.255+331G>C NP_001349404.1:n.255+331G>C