Canonical Allele Identifier: CA2580072526

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 2141234
• ClinVar RCV Id: RCV003073899
• gnomAD v4: 5-127339232-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127339232C>T , CM000667.2:g.127339232C>T	GRCh38
NC_000005.9:g.126674924C>T , CM000667.1:g.126674924C>T	GRCh37
NC_000005.8:g.126702823C>T	NCBI36
NG_032072.1:g.53469C>T
NG_032072.2:g.53469C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000503335.7:c.218+11C>T MANE Select	ENSP00000423354.2:n.218+11C>T
ENST00000274473.6:c.218+11C>T	ENSP00000274473.6:n.218+11C>T
ENST00000418761.6:c.218+11C>T	ENSP00000416284.2:n.218+11C>T
ENST00000503335.6:c.218+11C>T	ENSP00000423354.2:n.218+11C>T
ENST00000508365.5:c.218+11C>T	ENSP00000423195.1:n.218+11C>T
NM_001256545.1:c.218+11C>T	NP_001243474.1:n.218+11C>T
NM_001308119.1:c.218+11C>T	NP_001295048.1:n.218+11C>T
NM_001308121.1:c.218+11C>T	NP_001295050.1:n.218+11C>T
NM_032446.2:c.218+11C>T	NP_115822.1:n.218+11C>T
XM_011543692.1:c.218+11C>T	XP_011541994.1:n.218+11C>T
XM_011543693.1:c.218+11C>T	XP_011541995.1:n.218+11C>T
XM_011543694.1:c.218+11C>T	XP_011541996.1:n.218+11C>T
XM_017009987.1:c.383+11C>T	XP_016865476.1:n.383+11C>T
NM_001256545.2:c.218+11C>T MANE Select	NP_001243474.1:n.218+11C>T
NM_032446.3:c.218+11C>T	NP_115822.1:n.218+11C>T
NM_001308119.2:c.218+11C>T	NP_001295048.1:n.218+11C>T
NM_001308121.2:c.218+11C>T	NP_001295050.1:n.218+11C>T