Canonical Allele Identifier: CA8813660

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80050164A>G , CM000679.2:g.80050164A>G	GRCh38
NC_000017.10:g.78023963A>G , CM000679.1:g.78023963A>G	GRCh37
NC_000017.9:g.75638558A>G	NCBI36
NG_029761.1:g.18533A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.1040A>G MANE Select	NP_060420.2:p.Lys347Arg
ENST00000397545.9:c.1040A>G MANE Select	ENSP00000380679.4:p.Lys347Arg
NM_001243342.1:c.1040A>G	NP_001230271.1:p.Lys347Arg
NM_001243342.2:c.1040A>G	NP_001230271.1:p.Lys347Arg
NM_001330508.1:c.1040A>G	NP_001317437.1:p.Lys347Arg
NM_001330508.2:c.1040A>G	NP_001317437.1:p.Lys347Arg
NM_017950.3:c.1040A>G	NP_060420.2:p.Lys347Arg
ENST00000269318.9:c.1040A>G	ENSP00000269318.5:p.Lys347Arg
ENST00000374876.4:c.1040A>G	ENSP00000364010.4:p.Lys347Arg
ENST00000374877.7:c.1040A>G	ENSP00000364011.3:p.Lys347Arg
ENST00000397545.8:c.1040A>G	ENSP00000380679.4:p.Lys347Arg
ENST00000573474.5:c.494A>G
ENST00000574799.5:n.577A>G
XM_005257492.3:c.1040A>G	XP_005257549.1:p.Lys347Arg
XM_011524963.1:c.950A>G	XP_011523265.1:p.Lys317Arg
XM_011524963.3:c.950A>G	XP_011523265.1:p.Lys317Arg
XM_011524965.1:c.1040A>G	XP_011523267.1:p.Lys347Arg
XM_011524965.3:c.1040A>G	XP_011523267.1:p.Lys347Arg
XM_017024807.1:c.1040A>G	XP_016880296.1:p.Lys347Arg
XM_024450821.1:c.950A>G	XP_024306589.1:p.Lys317Arg
XR_001752550.2:n.1071A>G
XR_934495.1:n.1071A>G
XR_934495.2:n.1071A>G