Canonical Allele Identifier: CA9476112

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42371397C>T , CM000681.2:g.42371397C>T	GRCh38
NC_000019.9:g.42875549C>T , CM000681.1:g.42875549C>T	GRCh37
NC_000019.8:g.47567389C>T	NCBI36
NG_033030.1:g.50789C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.7184C>T MANE Select	NP_001258867.1:p.Thr2395Met
ENST00000251268.11:c.7184C>T MANE Select	ENSP00000251268.5:p.Thr2395Met
NM_001271938.1:c.7184C>T	NP_001258867.1:p.Thr2395Met
NM_001410.2:c.6983C>T	NP_001401.2:p.Thr2328Met
NM_001410.3:c.6983C>T	NP_001401.2:p.Thr2328Met
ENST00000251268.10:c.7184C>T	ENSP00000251268.5:p.Thr2395Met
ENST00000334370.8:c.6983C>T	ENSP00000334219.4:p.Thr2328Met
ENST00000378073.5:c.51+566C>T	ENSP00000367313.4:n.51+566C>T
ENST00000593647.1:c.395+566C>T	ENSP00000470620.1:n.395+566C>T
ENST00000598762.1:c.162-7303C>T
ENST00000599787.1:n.204+566C>T