Canonical Allele Identifier: CA8814543
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80095330G>A
GRCh37 chr17:g.78069129G>A
Revel Score:
ENST00000397545 (MANE Select) 0.031
gnomAD v2:
17:78069129 G / A
gnomAD v3:
17:80095330 G / A
gnomAD v4:
chr17-80095330-G-A
Joint Max Group AF 0.00296574 (SAS)
Genomes Max Group AF 0.00234279 (NFE)
Exomes Max Group AF 0.00298882 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80095330G>A , CM000679.2:g.80095330G>A GRCh38
NC_000017.10:g.78069129G>A , CM000679.1:g.78069129G>A GRCh37
NC_000017.9:g.75683724G>A NCBI36
NG_029761.1:g.63699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.2900G>A MANE Select ENSP00000380679.4:p.Arg967His
ENST00000397545.8:c.2900G>A ENSP00000380679.4:p.Arg967His
ENST00000572253.5:n.3151G>A
ENST00000574799.5:n.2437G>A
ENST00000575431.1:n.544G>A
NM_017950.3:c.2900G>A NP_060420.2:p.Arg967His
XM_011524963.1:c.2810G>A XP_011523265.1:p.Arg937His
XM_011524964.1:c.1721G>A XP_011523266.1:p.Arg574His
XM_011524963.3:c.2810G>A XP_011523265.1:p.Arg937His
XM_011524964.3:c.1721G>A XP_011523266.1:p.Arg574His
XM_024450821.1:c.2810G>A XP_024306589.1:p.Arg937His
XR_934495.2:n.3018G>A
NM_017950.4:c.2900G>A MANE Select NP_060420.2:p.Arg967His
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