Canonical Allele Identifier: CA502176349

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073331T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099532T>C , CM000679.2:g.80099532T>C	GRCh38
NC_000017.10:g.78073331T>C , CM000679.1:g.78073331T>C	GRCh37
NC_000017.9:g.75687926T>C	NCBI36
NG_009822.1:g.2977T>C , LRG_673:g.2977T>C
NG_029761.1:g.67901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3186T>C MANE Select	ENSP00000380679.4:p.Leu1062=
ENST00000397545.8:c.3186T>C	ENSP00000380679.4:p.Leu1062=
ENST00000574799.5:n.2723T>C
NM_017950.3:c.3186T>C	NP_060420.2:p.Leu1062=
XM_011524963.1:c.3096T>C	XP_011523265.1:p.Leu1032=
XM_011524964.1:c.2007T>C	XP_011523266.1:p.Leu669=
XM_011524963.3:c.3096T>C	XP_011523265.1:p.Leu1032=
XM_011524964.3:c.2007T>C	XP_011523266.1:p.Leu669=
XM_024450821.1:c.3096T>C	XP_024306589.1:p.Leu1032=
XR_934495.2:n.3304T>C
NM_017950.4:c.3186T>C MANE Select	NP_060420.2:p.Leu1062=