Canonical Allele Identifier: CA8814135
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80084980G>A
GRCh37 chr17:g.78058779G>A
Revel Score:
ENST00000374877 0.071
ENST00000397545 (MANE Select) 0.071
gnomAD v2:
17:78058779 G / A
gnomAD v3:
17:80084980 G / A
gnomAD v4:
chr17-80084980-G-A
Joint Max Group AF 0.00431286 (AMR)
Genomes Max Group AF 0.00102673 (AMR)
Exomes Max Group AF 0.00529947 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80084980G>A , CM000679.2:g.80084980G>A GRCh38
NC_000017.10:g.78058779G>A , CM000679.1:g.78058779G>A GRCh37
NC_000017.9:g.75673374G>A NCBI36
NG_029761.1:g.53349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.2227G>A MANE Select ENSP00000380679.4:p.Glu743Lys
ENST00000374877.7:c.2227G>A ENSP00000364011.3:p.Glu743Lys
ENST00000397545.8:c.2227G>A ENSP00000380679.4:p.Glu743Lys
ENST00000572253.5:n.854G>A
ENST00000574799.5:n.1764G>A
NM_001243342.1:c.2227G>A NP_001230271.1:p.Glu743Lys
NM_017950.3:c.2227G>A NP_060420.2:p.Glu743Lys
XM_011524963.1:c.2137G>A XP_011523265.1:p.Glu713Lys
XM_011524964.1:c.1048G>A XP_011523266.1:p.Glu350Lys
XR_934495.1:n.2258G>A
XM_011524963.3:c.2137G>A XP_011523265.1:p.Glu713Lys
XM_011524964.3:c.1048G>A XP_011523266.1:p.Glu350Lys
XM_024450821.1:c.2137G>A XP_024306589.1:p.Glu713Lys
XR_001752550.2:n.2258G>A
XR_934495.2:n.2258G>A
NM_017950.4:c.2227G>A MANE Select NP_060420.2:p.Glu743Lys
NM_001243342.2:c.2227G>A NP_001230271.1:p.Glu743Lys
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