Canonical Allele Identifier: CA401357300

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073327A>T (hg19) ; chr17:g.80099528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099528A>T , CM000679.2:g.80099528A>T	GRCh38
NC_000017.10:g.78073327A>T , CM000679.1:g.78073327A>T	GRCh37
NC_000017.9:g.75687922A>T	NCBI36
NG_009822.1:g.2973A>T , LRG_673:g.2973A>T
NG_029761.1:g.67897A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3182A>T MANE Select	ENSP00000380679.4:p.Asn1061Ile
ENST00000397545.8:c.3182A>T	ENSP00000380679.4:p.Asn1061Ile
ENST00000574799.5:n.2719A>T
NM_017950.3:c.3182A>T	NP_060420.2:p.Asn1061Ile
XM_011524963.1:c.3092A>T	XP_011523265.1:p.Asn1031Ile
XM_011524964.1:c.2003A>T	XP_011523266.1:p.Asn668Ile
XM_011524963.3:c.3092A>T	XP_011523265.1:p.Asn1031Ile
XM_011524964.3:c.2003A>T	XP_011523266.1:p.Asn668Ile
XM_024450821.1:c.3092A>T	XP_024306589.1:p.Asn1031Ile
XR_934495.2:n.3300A>T
NM_017950.4:c.3182A>T MANE Select	NP_060420.2:p.Asn1061Ile