Canonical Allele Identifier: CA3391196
Gene: MEGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 262070
dbSNP Id: rs72786483

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127339238C>G , CM000667.2:g.127339238C>G GRCh38
NC_000005.9:g.126674930C>G , CM000667.1:g.126674930C>G GRCh37
NC_000005.8:g.126702829C>G NCBI36
NG_032072.1:g.53475C>G
NG_032072.2:g.53475C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503335.7:c.218+17C>G MANE Select ENSP00000423354.2:n.218+17C>G
ENST00000274473.6:c.218+17C>G ENSP00000274473.6:n.218+17C>G
ENST00000418761.6:c.218+17C>G ENSP00000416284.2:n.218+17C>G
ENST00000503335.6:c.218+17C>G ENSP00000423354.2:n.218+17C>G
ENST00000508365.5:c.218+17C>G ENSP00000423195.1:n.218+17C>G
NM_001256545.1:c.218+17C>G NP_001243474.1:n.218+17C>G
NM_001308119.1:c.218+17C>G NP_001295048.1:n.218+17C>G
NM_001308121.1:c.218+17C>G NP_001295050.1:n.218+17C>G
NM_032446.2:c.218+17C>G NP_115822.1:n.218+17C>G
XM_011543692.1:c.218+17C>G XP_011541994.1:n.218+17C>G
XM_011543693.1:c.218+17C>G XP_011541995.1:n.218+17C>G
XM_011543694.1:c.218+17C>G XP_011541996.1:n.218+17C>G
XM_017009987.1:c.383+17C>G XP_016865476.1:n.383+17C>G
NM_001256545.2:c.218+17C>G MANE Select NP_001243474.1:n.218+17C>G
NM_032446.3:c.218+17C>G NP_115822.1:n.218+17C>G
NM_001308119.2:c.218+17C>G NP_001295048.1:n.218+17C>G
NM_001308121.2:c.218+17C>G NP_001295050.1:n.218+17C>G