Canonical Allele Identifier: CA8814541
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80095322G>A
GRCh37 chr17:g.78069121G>A
gnomAD v2:
17:78069121 G / A
gnomAD v3:
17:80095322 G / A
gnomAD v4:
chr17-80095322-G-A
Joint Max Group AF 0.00412487 (MID)
Genomes Max Group AF 0.00065522 (AMR)
Exomes Max Group AF 0.00403906 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80095322G>A , CM000679.2:g.80095322G>A GRCh38
NC_000017.10:g.78069121G>A , CM000679.1:g.78069121G>A GRCh37
NC_000017.9:g.75683716G>A NCBI36
NG_029761.1:g.63691G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.2892G>A MANE Select ENSP00000380679.4:p.Ala964=
ENST00000397545.8:c.2892G>A ENSP00000380679.4:p.Ala964=
ENST00000572253.5:n.3143G>A
ENST00000574799.5:n.2429G>A
ENST00000575431.1:n.536G>A
NM_017950.3:c.2892G>A NP_060420.2:p.Ala964=
XM_011524963.1:c.2802G>A XP_011523265.1:p.Ala934=
XM_011524964.1:c.1713G>A XP_011523266.1:p.Ala571=
XM_011524963.3:c.2802G>A XP_011523265.1:p.Ala934=
XM_011524964.3:c.1713G>A XP_011523266.1:p.Ala571=
XM_024450821.1:c.2802G>A XP_024306589.1:p.Ala934=
XR_934495.2:n.3010G>A
NM_017950.4:c.2892G>A MANE Select NP_060420.2:p.Ala964=
Search 100 bp 5'
Search 100 bp 3'