Canonical Allele Identifier: CA8814227

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80087654A>G , CM000679.2:g.80087654A>G	GRCh38
NC_000017.10:g.78061453A>G , CM000679.1:g.78061453A>G	GRCh37
NC_000017.9:g.75676048A>G	NCBI36
NG_029761.1:g.56023A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.2497A>G MANE Select	NP_060420.2:p.Met833Val
ENST00000397545.9:c.2497A>G MANE Select	ENSP00000380679.4:p.Met833Val
NM_001243342.1:c.2497A>G	NP_001230271.1:p.Met833Val
NM_001243342.2:c.2497A>G	NP_001230271.1:p.Met833Val
NM_017950.3:c.2497A>G	NP_060420.2:p.Met833Val
ENST00000374877.7:c.2497A>G	ENSP00000364011.3:p.Met833Val
ENST00000397545.8:c.2497A>G	ENSP00000380679.4:p.Met833Val
ENST00000572253.5:n.2514A>G
ENST00000574799.5:n.2034A>G
ENST00000575431.1:n.141A>G
XM_011524963.1:c.2407A>G	XP_011523265.1:p.Met803Val
XM_011524963.3:c.2407A>G	XP_011523265.1:p.Met803Val
XM_011524964.1:c.1318A>G	XP_011523266.1:p.Met440Val
XM_011524964.3:c.1318A>G	XP_011523266.1:p.Met440Val
XM_024450821.1:c.2407A>G	XP_024306589.1:p.Met803Val
XR_001752550.2:n.2528A>G
XR_934495.1:n.2528A>G
XR_934495.2:n.2528A>G