Canonical Allele Identifier: CA2640268660

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80100336-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100336A>C , CM000679.2:g.80100336A>C	GRCh38
NC_000017.10:g.78074135A>C , CM000679.1:g.78074135A>C	GRCh37
NC_000017.9:g.75688730A>C	NCBI36
NG_009822.1:g.3781A>C , LRG_673:g.3781A>C
NG_029761.1:g.68705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*561A>C MANE Select	ENSP00000380679.4:n.*561A>C
ENST00000397545.8:c.*561A>C	ENSP00000380679.4:n.*561A>C
ENST00000574799.5:n.3527A>C
NM_017950.3:c.*561A>C	NP_060420.2:n.*561A>C
XM_011524963.1:c.*561A>C	XP_011523265.1:n.*561A>C
XM_011524964.1:c.*561A>C	XP_011523266.1:n.*561A>C
XM_011524963.3:c.*561A>C	XP_011523265.1:n.*561A>C
XM_011524964.3:c.*561A>C	XP_011523266.1:n.*561A>C
XM_024450821.1:c.*561A>C	XP_024306589.1:n.*561A>C
XR_934495.2:n.4108A>C
NM_017950.4:c.*561A>C MANE Select	NP_060420.2:n.*561A>C