Canonical Allele Identifier: CA9476108

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42371368C>T , CM000681.2:g.42371368C>T	GRCh38
NC_000019.9:g.42875520C>T , CM000681.1:g.42875520C>T	GRCh37
NC_000019.8:g.47567360C>T	NCBI36
NG_033030.1:g.50760C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.7155C>T MANE Select	NP_001258867.1:p.His2385=
ENST00000251268.11:c.7155C>T MANE Select	ENSP00000251268.5:p.His2385=
NM_001271938.1:c.7155C>T	NP_001258867.1:p.His2385=
NM_001410.2:c.6954C>T	NP_001401.2:p.His2318=
NM_001410.3:c.6954C>T	NP_001401.2:p.His2318=
ENST00000251268.10:c.7155C>T	ENSP00000251268.5:p.His2385=
ENST00000334370.8:c.6954C>T	ENSP00000334219.4:p.His2318=
ENST00000378073.5:c.51+537C>T	ENSP00000367313.4:n.51+537C>T
ENST00000593647.1:c.395+537C>T	ENSP00000470620.1:n.395+537C>T
ENST00000598762.1:c.162-7332C>T
ENST00000599787.1:n.204+537C>T