Canonical Allele Identifier: CA129572
Gene: MEGF10 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.127440825T>C
GRCh37 chr5:g.126776517T>C
Revel Score:
ENST00000503335 (MANE Select) 0.961
ENST00000274473 0.961
gnomAD v2:
5:126776517 T / C
gnomAD v3:
5:127440825 T / C
gnomAD v4:
chr5-127440825-T-C
Joint Max Group AF 0.00004535 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004612 (NFE)
ClinVar Allele:
39922
ClinVar RCV:
RCV000023955
RCV000023956
RCV003156219
ClinVar Variation:
30965
dbSNP:
387907072
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127440825T>C , CM000667.2:g.127440825T>C GRCh38
NC_000005.9:g.126776517T>C , CM000667.1:g.126776517T>C GRCh37
NC_000005.8:g.126804416T>C NCBI36
NG_032072.1:g.155062T>C
NG_032072.2:g.155062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000503335.7:c.2320T>C MANE Select ENSP00000423354.2:p.Cys774Arg
ENST00000274473.6:c.2320T>C ENSP00000274473.6:p.Cys774Arg
ENST00000503335.6:c.2320T>C ENSP00000423354.2:p.Cys774Arg
ENST00000506709.1:n.561T>C
NM_001256545.1:c.2320T>C NP_001243474.1:p.Cys774Arg
NM_032446.2:c.2320T>C NP_115822.1:p.Cys774Arg
XM_011543692.1:c.2320T>C XP_011541994.1:p.Cys774Arg
XM_011543693.1:c.2320T>C XP_011541995.1:p.Cys774Arg
XM_011543694.1:c.2320T>C XP_011541996.1:p.Cys774Arg
XM_017009987.1:c.2485T>C XP_016865476.1:p.Cys829Arg
XM_017009988.1:c.1180T>C XP_016865477.1:p.Cys394Arg
NM_001256545.2:c.2320T>C MANE Select NP_001243474.1:p.Cys774Arg
NM_032446.3:c.2320T>C NP_115822.1:p.Cys774Arg
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