Canonical Allele Identifier: CA401357306

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073330T>A (hg19) ; chr17:g.80099531T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099531T>A , CM000679.2:g.80099531T>A	GRCh38
NC_000017.10:g.78073330T>A , CM000679.1:g.78073330T>A	GRCh37
NC_000017.9:g.75687925T>A	NCBI36
NG_009822.1:g.2976T>A , LRG_673:g.2976T>A
NG_029761.1:g.67900T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3185T>A MANE Select	ENSP00000380679.4:p.Leu1062His
ENST00000397545.8:c.3185T>A	ENSP00000380679.4:p.Leu1062His
ENST00000574799.5:n.2722T>A
NM_017950.3:c.3185T>A	NP_060420.2:p.Leu1062His
XM_011524963.1:c.3095T>A	XP_011523265.1:p.Leu1032His
XM_011524964.1:c.2006T>A	XP_011523266.1:p.Leu669His
XM_011524963.3:c.3095T>A	XP_011523265.1:p.Leu1032His
XM_011524964.3:c.2006T>A	XP_011523266.1:p.Leu669His
XM_024450821.1:c.3095T>A	XP_024306589.1:p.Leu1032His
XR_934495.2:n.3303T>A
NM_017950.4:c.3185T>A MANE Select	NP_060420.2:p.Leu1062His