Canonical Allele Identifier: CA502169633

Gene: CCDC40

Linked Data

• dbSNP Id: rs2037825055
• gnomAD v3: 17-80058963-A-C
• gnomAD v4: 17-80058963-A-C
• MyVariant Identifiers: chr17:g.78032762A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058963A>C , CM000679.2:g.80058963A>C	GRCh38
NC_000017.10:g.78032762A>C , CM000679.1:g.78032762A>C	GRCh37
NC_000017.9:g.75647357A>C	NCBI36
NG_029761.1:g.27332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1423A>C MANE Select	ENSP00000380679.4:p.Arg475=
ENST00000269318.9:c.1423A>C	ENSP00000269318.5:p.Arg475=
ENST00000374876.4:c.1317+312A>C	ENSP00000364010.4:n.1317+312A>C
ENST00000374877.7:c.1423A>C	ENSP00000364011.3:p.Arg475=
ENST00000397545.8:c.1423A>C	ENSP00000380679.4:p.Arg475=
ENST00000571028.1:c.39A>C
ENST00000574799.5:n.960A>C
NM_001243342.1:c.1423A>C	NP_001230271.1:p.Arg475=
NM_017950.3:c.1423A>C	NP_060420.2:p.Arg475=
XM_005257492.3:c.1423A>C	XP_005257549.1:p.Arg475=
XM_011524963.1:c.1333A>C	XP_011523265.1:p.Arg445=
XM_011524964.1:c.244A>C	XP_011523266.1:p.Arg82=
XM_011524965.1:c.1423A>C	XP_011523267.1:p.Arg475=
XR_934495.1:n.1454A>C
NM_001330508.1:c.1423A>C	NP_001317437.1:p.Arg475=
XM_011524963.3:c.1333A>C	XP_011523265.1:p.Arg445=
XM_011524964.3:c.244A>C	XP_011523266.1:p.Arg82=
XM_011524965.3:c.1423A>C	XP_011523267.1:p.Arg475=
XM_017024807.1:c.1423A>C	XP_016880296.1:p.Arg475=
XM_024450821.1:c.1333A>C	XP_024306589.1:p.Arg445=
XR_001752550.2:n.1454A>C
XR_934495.2:n.1454A>C
NM_017950.4:c.1423A>C MANE Select	NP_060420.2:p.Arg475=
NM_001330508.2:c.1423A>C	NP_001317437.1:p.Arg475=
NM_001243342.2:c.1423A>C	NP_001230271.1:p.Arg475=