Canonical Allele Identifier: CA2640268675

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80100346-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100346T>G , CM000679.2:g.80100346T>G	GRCh38
NC_000017.10:g.78074145T>G , CM000679.1:g.78074145T>G	GRCh37
NC_000017.9:g.75688740T>G	NCBI36
NG_009822.1:g.3791T>G , LRG_673:g.3791T>G
NG_029761.1:g.68715T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*571T>G MANE Select	ENSP00000380679.4:n.*571T>G
ENST00000397545.8:c.*571T>G	ENSP00000380679.4:n.*571T>G
ENST00000574799.5:n.3537T>G
NM_017950.3:c.*571T>G	NP_060420.2:n.*571T>G
XM_011524963.1:c.*571T>G	XP_011523265.1:n.*571T>G
XM_011524964.1:c.*571T>G	XP_011523266.1:n.*571T>G
XM_011524963.3:c.*571T>G	XP_011523265.1:n.*571T>G
XM_011524964.3:c.*571T>G	XP_011523266.1:n.*571T>G
XM_024450821.1:c.*571T>G	XP_024306589.1:n.*571T>G
XR_934495.2:n.4118T>G
NM_017950.4:c.*571T>G MANE Select	NP_060420.2:n.*571T>G