Canonical Allele Identifier: CA16615716
Gene: CCDC40 HGNC NCBI

Linked Data

ClinVar Variation Id: 407770
dbSNP Id: rs775299709

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80058610G>T , CM000679.2:g.80058610G>T GRCh38
NC_000017.10:g.78032409G>T , CM000679.1:g.78032409G>T GRCh37
NC_000017.9:g.75647004G>T NCBI36
NG_029761.1:g.26979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.1276G>T MANE Select ENSP00000380679.4:p.Glu426Ter
ENST00000269318.9:c.1276G>T ENSP00000269318.5:p.Glu426Ter
ENST00000374876.4:c.1276G>T ENSP00000364010.4:p.Glu426Ter
ENST00000374877.7:c.1276G>T ENSP00000364011.3:p.Glu426Ter
ENST00000397545.8:c.1276G>T ENSP00000380679.4:p.Glu426Ter
ENST00000574799.5:n.813G>T
NM_001243342.1:c.1276G>T NP_001230271.1:p.Glu426Ter
NM_017950.3:c.1276G>T NP_060420.2:p.Glu426Ter
XM_005257492.3:c.1276G>T XP_005257549.1:p.Glu426Ter
XM_011524963.1:c.1186G>T XP_011523265.1:p.Glu396Ter
XM_011524964.1:c.97G>T XP_011523266.1:p.Glu33Ter
XM_011524965.1:c.1276G>T XP_011523267.1:p.Glu426Ter
XR_934495.1:n.1307G>T
NM_001330508.1:c.1276G>T NP_001317437.1:p.Glu426Ter
XM_011524963.3:c.1186G>T XP_011523265.1:p.Glu396Ter
XM_011524964.3:c.97G>T XP_011523266.1:p.Glu33Ter
XM_011524965.3:c.1276G>T XP_011523267.1:p.Glu426Ter
XM_017024807.1:c.1276G>T XP_016880296.1:p.Glu426Ter
XM_024450821.1:c.1186G>T XP_024306589.1:p.Glu396Ter
XR_001752550.2:n.1307G>T
XR_934495.2:n.1307G>T
NM_017950.4:c.1276G>T MANE Select NP_060420.2:p.Glu426Ter
NM_001330508.2:c.1276G>T NP_001317437.1:p.Glu426Ter
NM_001243342.2:c.1276G>T NP_001230271.1:p.Glu426Ter