Canonical Allele Identifier: CA8814156
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80086018C>A
GRCh37 chr17:g.78059817C>A
Revel Score:
ENST00000374877 0.533
ENST00000397545 (MANE Select) 0.533
gnomAD v2:
17:78059817 C / A
gnomAD v3:
17:80086018 C / A
gnomAD v4:
chr17-80086018-C-A
Joint Max Group AF 0.00429971 (SAS)
Genomes Max Group AF 0.00257997 (SAS)
Exomes Max Group AF 0.0043296 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80086018C>A , CM000679.2:g.80086018C>A GRCh38
NC_000017.10:g.78059817C>A , CM000679.1:g.78059817C>A GRCh37
NC_000017.9:g.75674412C>A NCBI36
NG_029761.1:g.54387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.2251C>A MANE Select ENSP00000380679.4:p.Pro751Thr
ENST00000374877.7:c.2251C>A ENSP00000364011.3:p.Pro751Thr
ENST00000397545.8:c.2251C>A ENSP00000380679.4:p.Pro751Thr
ENST00000572253.5:n.878C>A
ENST00000574799.5:n.1788C>A
NM_001243342.1:c.2251C>A NP_001230271.1:p.Pro751Thr
NM_017950.3:c.2251C>A NP_060420.2:p.Pro751Thr
XM_011524963.1:c.2161C>A XP_011523265.1:p.Pro721Thr
XM_011524964.1:c.1072C>A XP_011523266.1:p.Pro358Thr
XR_934495.1:n.2282C>A
XM_011524963.3:c.2161C>A XP_011523265.1:p.Pro721Thr
XM_011524964.3:c.1072C>A XP_011523266.1:p.Pro358Thr
XM_024450821.1:c.2161C>A XP_024306589.1:p.Pro721Thr
XR_001752550.2:n.2282C>A
XR_934495.2:n.2282C>A
NM_017950.4:c.2251C>A MANE Select NP_060420.2:p.Pro751Thr
NM_001243342.2:c.2251C>A NP_001230271.1:p.Pro751Thr
Search 100 bp 5'
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