Canonical Allele Identifier: CA9476338

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42376413C>T , CM000681.2:g.42376413C>T	GRCh38
NC_000019.9:g.42880565C>T , CM000681.1:g.42880565C>T	GRCh37
NC_000019.8:g.47572405C>T	NCBI36
NG_033030.1:g.55805C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.8176C>T MANE Select	NP_001258867.1:p.Arg2726Cys
ENST00000251268.11:c.8176C>T MANE Select	ENSP00000251268.5:p.Arg2726Cys
NM_001271938.1:c.8176C>T	NP_001258867.1:p.Arg2726Cys
NM_001410.2:c.7975C>T	NP_001401.2:p.Arg2659Cys
NM_001410.3:c.7975C>T	NP_001401.2:p.Arg2659Cys
ENST00000251268.10:c.8176C>T	ENSP00000251268.5:p.Arg2726Cys
ENST00000334370.8:c.7975C>T	ENSP00000334219.4:p.Arg2659Cys
ENST00000378073.5:c.958C>T	ENSP00000367313.4:p.Arg320Cys
ENST00000593647.1:c.1302C>T	ENSP00000470620.1:n.1302C>T
ENST00000598762.1:c.162-2287C>T