Canonical Allele Identifier: CA379147668
Gene: CDKN1C HGNC NCBI

Linked Data

gnomAD v4: 11-2885361-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2885361G>T , CM000673.2:g.2885361G>T GRCh38
NC_000011.9:g.2906591G>T , CM000673.1:g.2906591G>T GRCh37
NC_000011.8:g.2863167G>T NCBI36
NG_008022.1:g.5405C>A , LRG_533:g.5405C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000681969.1:n.142+273C>A
ENST00000380725.2:c.96C>A ENSP00000370101.1:p.Ser32Arg
ENST00000414822.8:c.129C>A ENSP00000413720.3:p.Ser43Arg
ENST00000430149.3:c.129C>A ENSP00000411552.2:p.Ser43Arg
ENST00000440480.8:c.96C>A MANE Select ENSP00000411257.2:p.Ser32Arg
ENST00000647251.1:c.96C>A ENSP00000496631.1:p.Ser32Arg
ENST00000380725.1:c.96C>A ENSP00000370101.1:p.Ser32Arg
ENST00000414822.7:c.129C>A ENSP00000413720.3:p.Ser43Arg
ENST00000430149.2:c.129C>A ENSP00000411552.2:p.Ser43Arg
ENST00000440480.6:c.96C>A ENSP00000411257.2:p.Ser32Arg
NM_000076.2:c.129C>A , LRG_533t1:c.129C>A NP_000067.1:p.Ser43Arg
NM_001122630.1:c.96C>A NP_001116102.1:p.Ser32Arg
NM_001122631.1:c.96C>A NP_001116103.1:p.Ser32Arg
XM_005252732.3:c.96C>A XP_005252789.1:p.Ser32Arg
NM_001362474.1:c.129C>A NP_001349403.1:p.Ser43Arg
NM_001362475.1:c.96C>A NP_001349404.1:p.Ser32Arg
NM_001122630.2:c.96C>A MANE Select NP_001116102.1:p.Ser32Arg
NM_001122631.2:c.96C>A NP_001116103.1:p.Ser32Arg
NM_001362474.2:c.129C>A NP_001349403.1:p.Ser43Arg
NM_001362475.2:c.96C>A NP_001349404.1:p.Ser32Arg