Canonical Allele Identifier: CA9476011

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42370264G>A , CM000681.2:g.42370264G>A	GRCh38
NC_000019.9:g.42874416G>A , CM000681.1:g.42874416G>A	GRCh37
NC_000019.8:g.47566256G>A	NCBI36
NG_033030.1:g.49656G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.6910G>A MANE Select	NP_001258867.1:p.Ala2304Thr
ENST00000251268.11:c.6910G>A MANE Select	ENSP00000251268.5:p.Ala2304Thr
NM_001271938.1:c.6910G>A	NP_001258867.1:p.Ala2304Thr
NM_001410.2:c.6709G>A	NP_001401.2:p.Ala2237Thr
NM_001410.3:c.6709G>A	NP_001401.2:p.Ala2237Thr
ENST00000251268.10:c.6910G>A	ENSP00000251268.5:p.Ala2304Thr
ENST00000334370.8:c.6709G>A	ENSP00000334219.4:p.Ala2237Thr
ENST00000378073.5:c.-176G>A	ENSP00000367313.4:n.-176G>A
ENST00000593647.1:c.169G>A	ENSP00000470620.1:p.Ala57Thr
ENST00000598762.1:c.161+8051G>A