Canonical Allele Identifier: CA336041
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80084770G>A
GRCh37 chr17:g.78058569G>A
Revel Score:
ENST00000374877 0.152
ENST00000397545 (MANE Select) 0.152
gnomAD v2:
17:78058569 G / A
gnomAD v3:
17:80084770 G / A
gnomAD v4:
chr17-80084770-G-A
Joint Max Group AF 0.00985714 (AFR)
Genomes Max Group AF 0.00882873 (AFR)
Exomes Max Group AF 0.01058127 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80084770G>A , CM000679.2:g.80084770G>A GRCh38
NC_000017.10:g.78058569G>A , CM000679.1:g.78058569G>A GRCh37
NC_000017.9:g.75673164G>A NCBI36
NG_029761.1:g.53139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.2017G>A MANE Select ENSP00000380679.4:p.Asp673Asn
ENST00000374877.7:c.2017G>A ENSP00000364011.3:p.Asp673Asn
ENST00000397545.8:c.2017G>A ENSP00000380679.4:p.Asp673Asn
ENST00000572253.5:n.644G>A
ENST00000574799.5:n.1554G>A
NM_001243342.1:c.2017G>A NP_001230271.1:p.Asp673Asn
NM_017950.3:c.2017G>A NP_060420.2:p.Asp673Asn
XM_011524963.1:c.1927G>A XP_011523265.1:p.Asp643Asn
XM_011524964.1:c.838G>A XP_011523266.1:p.Asp280Asn
XR_934495.1:n.2048G>A
XM_011524963.3:c.1927G>A XP_011523265.1:p.Asp643Asn
XM_011524964.3:c.838G>A XP_011523266.1:p.Asp280Asn
XM_017024807.1:c.*24G>A XP_016880296.1:n.*24G>A
XM_024450821.1:c.1927G>A XP_024306589.1:p.Asp643Asn
XR_001752550.2:n.2048G>A
XR_934495.2:n.2048G>A
NM_017950.4:c.2017G>A MANE Select NP_060420.2:p.Asp673Asn
NM_001243342.2:c.2017G>A NP_001230271.1:p.Asp673Asn
Search 100 bp 5'
Search 100 bp 3'