Canonical Allele Identifier: CA3391195

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 968557
• ClinVar RCV Id: RCV001243719
• dbSNP Id: rs373947797
• ExAC: 5:126674918 T / C
• gnomAD v2: 5-126674918-T-C
• gnomAD v3: 5-127339226-T-C
• gnomAD v4: 5-127339226-T-C
• MyVariant Identifiers: chr5:g.126674918T>C (hg19) ; chr5:g.127339226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127339226T>C , CM000667.2:g.127339226T>C	GRCh38
NC_000005.9:g.126674918T>C , CM000667.1:g.126674918T>C	GRCh37
NC_000005.8:g.126702817T>C	NCBI36
NG_032072.1:g.53463T>C
NG_032072.2:g.53463T>C

Transcript Alleles

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