Canonical Allele Identifier: CA502175659

Gene: CCDC40

Linked Data

• dbSNP Id: rs767501166
• gnomAD v2: 17-78063566-C-T
• gnomAD v4: 17-80089767-C-T
• MyVariant Identifiers: chr17:g.78063566C>T (hg19) ; chr17:g.80089767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089767C>T , CM000679.2:g.80089767C>T	GRCh38
NC_000017.10:g.78063566C>T , CM000679.1:g.78063566C>T	GRCh37
NC_000017.9:g.75678161C>T	NCBI36
NG_029761.1:g.58136C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2715C>T MANE Select	ENSP00000380679.4:p.His905=
ENST00000374877.7:c.2715C>T	ENSP00000364011.3:p.His905=
ENST00000397545.8:c.2715C>T	ENSP00000380679.4:p.His905=
ENST00000572253.5:n.2966C>T
ENST00000573903.1:n.377C>T
ENST00000574799.5:n.2252C>T
ENST00000575431.1:n.359C>T
NM_001243342.1:c.2715C>T	NP_001230271.1:p.His905=
NM_017950.3:c.2715C>T	NP_060420.2:p.His905=
XM_011524963.1:c.2625C>T	XP_011523265.1:p.His875=
XM_011524964.1:c.1536C>T	XP_011523266.1:p.His512=
XR_934495.1:n.2833C>T
XM_011524963.3:c.2625C>T	XP_011523265.1:p.His875=
XM_011524964.3:c.1536C>T	XP_011523266.1:p.His512=
XM_024450821.1:c.2625C>T	XP_024306589.1:p.His875=
XR_934495.2:n.2833C>T
NM_017950.4:c.2715C>T MANE Select	NP_060420.2:p.His905=
NM_001243342.2:c.2715C>T	NP_001230271.1:p.His905=