Canonical Allele Identifier: CA3391595

Gene: MEGF10

Linked Data

• ClinVar Variation Id: 2082366
• ClinVar RCV Id: RCV002995957
• dbSNP Id: rs142355199
• ExAC: 5:126755818 C / T
• gnomAD v2: 5-126755818-C-T
• gnomAD v3: 5-127420126-C-T
• gnomAD v4: 5-127420126-C-T
• COSMIC: COSM1060244
• MyVariant Identifiers: chr5:g.126755818C>T (hg19) ; chr5:g.127420126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127420126C>T , CM000667.2:g.127420126C>T	GRCh38
NC_000005.9:g.126755818C>T , CM000667.1:g.126755818C>T	GRCh37
NC_000005.8:g.126783717C>T	NCBI36
NG_032072.1:g.134363C>T
NG_032072.2:g.134363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503335.7:c.1509C>T MANE Select	ENSP00000423354.2:p.Asn503=
ENST00000274473.6:c.1509C>T	ENSP00000274473.6:p.Asn503=
ENST00000418761.6:c.1509C>T	ENSP00000416284.2:p.Asn503=
ENST00000503335.6:c.1509C>T	ENSP00000423354.2:p.Asn503=
ENST00000508365.5:c.1509C>T	ENSP00000423195.1:p.Asn503=
NM_001256545.1:c.1509C>T	NP_001243474.1:p.Asn503=
NM_001308119.1:c.1509C>T	NP_001295048.1:p.Asn503=
NM_001308121.1:c.1509C>T	NP_001295050.1:p.Asn503=
NM_032446.2:c.1509C>T	NP_115822.1:p.Asn503=
XM_011543692.1:c.1509C>T	XP_011541994.1:p.Asn503=
XM_011543693.1:c.1509C>T	XP_011541995.1:p.Asn503=
XM_011543694.1:c.1509C>T	XP_011541996.1:p.Asn503=
XM_017009987.1:c.1674C>T	XP_016865476.1:p.Asn558=
XM_017009988.1:c.369C>T	XP_016865477.1:p.Asn123=
NM_001256545.2:c.1509C>T MANE Select	NP_001243474.1:p.Asn503=
NM_032446.3:c.1509C>T	NP_115822.1:p.Asn503=
NM_001308119.2:c.1509C>T	NP_001295048.1:p.Asn503=
NM_001308121.2:c.1509C>T	NP_001295050.1:p.Asn503=