Canonical Allele Identifier: CA401357386

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099570T>C , CM000679.2:g.80099570T>C	GRCh38
NC_000017.10:g.78073369T>C , CM000679.1:g.78073369T>C	GRCh37
NC_000017.9:g.75687964T>C	NCBI36
NG_009822.1:g.3015T>C , LRG_673:g.3015T>C
NG_029761.1:g.67939T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3224T>C MANE Select	NP_060420.2:p.Leu1075Pro
ENST00000397545.9:c.3224T>C MANE Select	ENSP00000380679.4:p.Leu1075Pro
NM_017950.3:c.3224T>C	NP_060420.2:p.Leu1075Pro
ENST00000397545.8:c.3224T>C	ENSP00000380679.4:p.Leu1075Pro
ENST00000574799.5:n.2761T>C
XM_011524963.1:c.3134T>C	XP_011523265.1:p.Leu1045Pro
XM_011524963.3:c.3134T>C	XP_011523265.1:p.Leu1045Pro
XM_011524964.1:c.2045T>C	XP_011523266.1:p.Leu682Pro
XM_011524964.3:c.2045T>C	XP_011523266.1:p.Leu682Pro
XM_024450821.1:c.3134T>C	XP_024306589.1:p.Leu1045Pro
XR_934495.2:n.3342T>C