Canonical Allele Identifier: CA8814047
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80081966C>T
GRCh37 chr17:g.78055765C>T
Revel Score:
ENST00000374877 0.109
ENST00000397545 (MANE Select) 0.109
gnomAD v2:
17:78055765 C / T
gnomAD v3:
17:80081966 C / T
gnomAD v4:
chr17-80081966-C-T
Joint Max Group AF 0.00013355 (MID)
Genomes Max Group AF 0.00007903 (AFR)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV000340743
RCV001492204
ClinVar Variation:
325737
dbSNP:
200551690
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80081966C>T , CM000679.2:g.80081966C>T GRCh38
NC_000017.10:g.78055765C>T , CM000679.1:g.78055765C>T GRCh37
NC_000017.9:g.75670360C>T NCBI36
NG_029761.1:g.50335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.1897C>T MANE Select ENSP00000380679.4:p.Arg633Trp
ENST00000374877.7:c.1897C>T ENSP00000364011.3:p.Arg633Trp
ENST00000397545.8:c.1897C>T ENSP00000380679.4:p.Arg633Trp
ENST00000572253.5:n.524C>T
ENST00000574799.5:n.1434C>T
NM_001243342.1:c.1897C>T NP_001230271.1:p.Arg633Trp
NM_017950.3:c.1897C>T NP_060420.2:p.Arg633Trp
XM_011524963.1:c.1807C>T XP_011523265.1:p.Arg603Trp
XM_011524964.1:c.718C>T XP_011523266.1:p.Arg240Trp
XM_011524965.1:c.1897C>T XP_011523267.1:p.Arg633Trp
XR_934495.1:n.1928C>T
XM_011524963.3:c.1807C>T XP_011523265.1:p.Arg603Trp
XM_011524964.3:c.718C>T XP_011523266.1:p.Arg240Trp
XM_011524965.3:c.1897C>T XP_011523267.1:p.Arg633Trp
XM_017024807.1:c.1897C>T XP_016880296.1:p.Arg633Trp
XM_024450821.1:c.1807C>T XP_024306589.1:p.Arg603Trp
XR_001752550.2:n.1928C>T
XR_934495.2:n.1928C>T
NM_017950.4:c.1897C>T MANE Select NP_060420.2:p.Arg633Trp
NM_001243342.2:c.1897C>T NP_001230271.1:p.Arg633Trp
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