Canonical Allele Identifier: CA2640268696

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80100361-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100361G>A , CM000679.2:g.80100361G>A	GRCh38
NC_000017.10:g.78074160G>A , CM000679.1:g.78074160G>A	GRCh37
NC_000017.9:g.75688755G>A	NCBI36
NG_009822.1:g.3806G>A , LRG_673:g.3806G>A
NG_029761.1:g.68730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*586G>A MANE Select	ENSP00000380679.4:n.*586G>A
ENST00000397545.8:c.*586G>A	ENSP00000380679.4:n.*586G>A
ENST00000574799.5:n.3552G>A
NM_017950.3:c.*586G>A	NP_060420.2:n.*586G>A
XM_011524963.1:c.*586G>A	XP_011523265.1:n.*586G>A
XM_011524964.1:c.*586G>A	XP_011523266.1:n.*586G>A
XM_011524963.3:c.*586G>A	XP_011523265.1:n.*586G>A
XM_011524964.3:c.*586G>A	XP_011523266.1:n.*586G>A
XM_024450821.1:c.*586G>A	XP_024306589.1:n.*586G>A
XR_934495.2:n.4133G>A
NM_017950.4:c.*586G>A MANE Select	NP_060420.2:n.*586G>A