Canonical Allele Identifier: CA2640268668

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80100339-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100339C>A , CM000679.2:g.80100339C>A	GRCh38
NC_000017.10:g.78074138C>A , CM000679.1:g.78074138C>A	GRCh37
NC_000017.9:g.75688733C>A	NCBI36
NG_009822.1:g.3784C>A , LRG_673:g.3784C>A
NG_029761.1:g.68708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*564C>A MANE Select	ENSP00000380679.4:n.*564C>A
ENST00000397545.8:c.*564C>A	ENSP00000380679.4:n.*564C>A
ENST00000574799.5:n.3530C>A
NM_017950.3:c.*564C>A	NP_060420.2:n.*564C>A
XM_011524963.1:c.*564C>A	XP_011523265.1:n.*564C>A
XM_011524964.1:c.*564C>A	XP_011523266.1:n.*564C>A
XM_011524963.3:c.*564C>A	XP_011523265.1:n.*564C>A
XM_011524964.3:c.*564C>A	XP_011523266.1:n.*564C>A
XM_024450821.1:c.*564C>A	XP_024306589.1:n.*564C>A
XR_934495.2:n.4111C>A
NM_017950.4:c.*564C>A MANE Select	NP_060420.2:n.*564C>A