Canonical Allele Identifier: CA3391598

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 1002633
• ClinVar RCV Id: RCV001299086 ; RCV001751573
• dbSNP Id: rs184606767
• ExAC: 5:126755832 A / G
• gnomAD v2: 5-126755832-A-G
• gnomAD v3: 5-127420140-A-G
• gnomAD v4: 5-127420140-A-G
• MyVariant Identifiers: chr5:g.126755832A>G (hg19) ; chr5:g.127420140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420140A>G , CM000667.2:g.127420140A>G	GRCh38
NC_000005.9:g.126755832A>G , CM000667.1:g.126755832A>G	GRCh37
NC_000005.8:g.126783731A>G	NCBI36
NG_032072.1:g.134377A>G
NG_032072.2:g.134377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503335.7:c.1523A>G MANE Select	ENSP00000423354.2:p.Asn508Ser
ENST00000274473.6:c.1523A>G	ENSP00000274473.6:p.Asn508Ser
ENST00000418761.6:c.1523A>G	ENSP00000416284.2:p.Asn508Ser
ENST00000503335.6:c.1523A>G	ENSP00000423354.2:p.Asn508Ser
ENST00000508365.5:c.1523A>G	ENSP00000423195.1:p.Asn508Ser
NM_001256545.1:c.1523A>G	NP_001243474.1:p.Asn508Ser
NM_001308119.1:c.1523A>G	NP_001295048.1:p.Asn508Ser
NM_001308121.1:c.1523A>G	NP_001295050.1:p.Asn508Ser
NM_032446.2:c.1523A>G	NP_115822.1:p.Asn508Ser
XM_011543692.1:c.1523A>G	XP_011541994.1:p.Asn508Ser
XM_011543693.1:c.1523A>G	XP_011541995.1:p.Asn508Ser
XM_011543694.1:c.1523A>G	XP_011541996.1:p.Asn508Ser
XM_017009987.1:c.1688A>G	XP_016865476.1:p.Asn563Ser
XM_017009988.1:c.383A>G	XP_016865477.1:p.Asn128Ser
NM_001256545.2:c.1523A>G MANE Select	NP_001243474.1:p.Asn508Ser
NM_032446.3:c.1523A>G	NP_115822.1:p.Asn508Ser
NM_001308119.2:c.1523A>G	NP_001295048.1:p.Asn508Ser
NM_001308121.2:c.1523A>G	NP_001295050.1:p.Asn508Ser