Canonical Allele Identifier: CA2640289269

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80086734-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086734G>T , CM000679.2:g.80086734G>T	GRCh38
NC_000017.10:g.78060533G>T , CM000679.1:g.78060533G>T	GRCh37
NC_000017.9:g.75675128G>T	NCBI36
NG_029761.1:g.55103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2449+518G>T MANE Select	ENSP00000380679.4:n.2449+518G>T
ENST00000374877.7:c.2449+518G>T	ENSP00000364011.3:n.2449+518G>T
ENST00000397545.8:c.2449+518G>T	ENSP00000380679.4:n.2449+518G>T
ENST00000572253.5:n.1594G>T
ENST00000574799.5:n.1986+518G>T
NM_001243342.1:c.2449+518G>T	NP_001230271.1:n.2449+518G>T
NM_017950.3:c.2449+518G>T	NP_060420.2:n.2449+518G>T
XM_011524963.1:c.2359+518G>T	XP_011523265.1:n.2359+518G>T
XM_011524964.1:c.1270+518G>T	XP_011523266.1:n.1270+518G>T
XR_934495.1:n.2480+518G>T
XM_011524963.3:c.2359+518G>T	XP_011523265.1:n.2359+518G>T
XM_011524964.3:c.1270+518G>T	XP_011523266.1:n.1270+518G>T
XM_024450821.1:c.2359+518G>T	XP_024306589.1:n.2359+518G>T
XR_001752550.2:n.2480+518G>T
XR_934495.2:n.2480+518G>T
NM_017950.4:c.2449+518G>T MANE Select	NP_060420.2:n.2449+518G>T
NM_001243342.2:c.2449+518G>T	NP_001230271.1:n.2449+518G>T