Canonical Allele Identifier: CA401356680

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097323C>T , CM000679.2:g.80097323C>T	GRCh38
NC_000017.10:g.78071122C>T , CM000679.1:g.78071122C>T	GRCh37
NC_000017.9:g.75685717C>T	NCBI36
NG_009822.1:g.768C>T , LRG_673:g.768C>T
NG_029761.1:g.65692C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3100C>T MANE Select	NP_060420.2:p.Gln1034Ter
ENST00000397545.9:c.3100C>T MANE Select	ENSP00000380679.4:p.Gln1034Ter
NM_017950.3:c.3100C>T	NP_060420.2:p.Gln1034Ter
ENST00000397545.8:c.3100C>T	ENSP00000380679.4:p.Gln1034Ter
ENST00000572253.5:n.3351C>T
ENST00000574799.5:n.2637C>T
XM_011524963.1:c.3010C>T	XP_011523265.1:p.Gln1004Ter
XM_011524963.3:c.3010C>T	XP_011523265.1:p.Gln1004Ter
XM_011524964.1:c.1921C>T	XP_011523266.1:p.Gln641Ter
XM_011524964.3:c.1921C>T	XP_011523266.1:p.Gln641Ter
XM_024450821.1:c.3010C>T	XP_024306589.1:p.Gln1004Ter
XR_934495.2:n.3218C>T