Canonical Allele Identifier: CA360730204

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 1521180
• ClinVar RCV Id: RCV002027814
• dbSNP Id: rs1381176973
• gnomAD v2: 5-126755870-C-T
• gnomAD v3: 5-127420178-C-T
• gnomAD v4: 5-127420178-C-T
• COSMIC: COSM3849790
• MyVariant Identifiers: chr5:g.126755870C>T (hg19) ; chr5:g.127420178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420178C>T , CM000667.2:g.127420178C>T	GRCh38
NC_000005.9:g.126755870C>T , CM000667.1:g.126755870C>T	GRCh37
NC_000005.8:g.126783769C>T	NCBI36
NG_032072.1:g.134415C>T
NG_032072.2:g.134415C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000503335.7:c.1561C>T MANE Select	ENSP00000423354.2:p.Arg521Cys
ENST00000274473.6:c.1561C>T	ENSP00000274473.6:p.Arg521Cys
ENST00000418761.6:c.1561C>T	ENSP00000416284.2:p.Arg521Cys
ENST00000503335.6:c.1561C>T	ENSP00000423354.2:p.Arg521Cys
ENST00000508365.5:c.1561C>T	ENSP00000423195.1:p.Arg521Cys
NM_001256545.1:c.1561C>T	NP_001243474.1:p.Arg521Cys
NM_001308119.1:c.1561C>T	NP_001295048.1:p.Arg521Cys
NM_001308121.1:c.1561C>T	NP_001295050.1:p.Arg521Cys
NM_032446.2:c.1561C>T	NP_115822.1:p.Arg521Cys
XM_011543692.1:c.1561C>T	XP_011541994.1:p.Arg521Cys
XM_011543693.1:c.1561C>T	XP_011541995.1:p.Arg521Cys
XM_011543694.1:c.1561C>T	XP_011541996.1:p.Arg521Cys
XM_017009987.1:c.1726C>T	XP_016865476.1:p.Arg576Cys
XM_017009988.1:c.421C>T	XP_016865477.1:p.Arg141Cys
NM_001256545.2:c.1561C>T MANE Select	NP_001243474.1:p.Arg521Cys
NM_032446.3:c.1561C>T	NP_115822.1:p.Arg521Cys
NM_001308119.2:c.1561C>T	NP_001295048.1:p.Arg521Cys
NM_001308121.2:c.1561C>T	NP_001295050.1:p.Arg521Cys