Canonical Allele Identifier: CA6245211
Gene: CEP126 HGNC NCBI

Linked Data

ClinVar Variation Id: 774477
ClinVar RCV Id: RCV000954461
dbSNP Id: rs142141239
COSMIC: COSM922186

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101948072C>G , CM000673.2:g.101948072C>G GRCh38
NC_000011.9:g.101818803C>G , CM000673.1:g.101818803C>G GRCh37
NC_000011.8:g.101324013C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263468.13:c.436C>G MANE Select ENSP00000263468.8:p.Gln146Glu
ENST00000670091.1:c.436C>G ENSP00000499679.1:p.Gln146Glu
ENST00000670318.1:c.436C>G ENSP00000499404.1:p.Gln146Glu
ENST00000263468.12:c.436C>G ENSP00000263468.8:p.Gln146Glu
ENST00000532529.1:c.78C>G
NM_020802.3:c.436C>G NP_065853.3:p.Gln146Glu
XM_005271627.3:c.436C>G XP_005271684.2:p.Gln146Glu
NM_001363543.1:c.-844C>G NP_001350472.1:n.-844C>G
XM_005271627.5:c.436C>G XP_005271684.2:p.Gln146Glu
NM_001363543.2:c.-844C>G NP_001350472.1:n.-844C>G
NM_020802.4:c.436C>G MANE Select NP_065853.3:p.Gln146Glu