Canonical Allele Identifier: CA2640268681

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80100348-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100348C>T , CM000679.2:g.80100348C>T	GRCh38
NC_000017.10:g.78074147C>T , CM000679.1:g.78074147C>T	GRCh37
NC_000017.9:g.75688742C>T	NCBI36
NG_009822.1:g.3793C>T , LRG_673:g.3793C>T
NG_029761.1:g.68717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*573C>T MANE Select	ENSP00000380679.4:n.*573C>T
ENST00000397545.8:c.*573C>T	ENSP00000380679.4:n.*573C>T
ENST00000574799.5:n.3539C>T
NM_017950.3:c.*573C>T	NP_060420.2:n.*573C>T
XM_011524963.1:c.*573C>T	XP_011523265.1:n.*573C>T
XM_011524964.1:c.*573C>T	XP_011523266.1:n.*573C>T
XM_011524963.3:c.*573C>T	XP_011523265.1:n.*573C>T
XM_011524964.3:c.*573C>T	XP_011523266.1:n.*573C>T
XM_024450821.1:c.*573C>T	XP_024306589.1:n.*573C>T
XR_934495.2:n.4120C>T
NM_017950.4:c.*573C>T MANE Select	NP_060420.2:n.*573C>T