Canonical Allele Identifier: CA406136758
Community Standard Title: NM_001271938.2(MEGF8):c.7005+1G>T
Gene: MEGF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42370360G>T , CM000681.2:g.42370360G>T GRCh38
NC_000019.9:g.42874512G>T , CM000681.1:g.42874512G>T GRCh37
NC_000019.8:g.47566352G>T NCBI36
NG_033030.1:g.49752G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001271938.2:c.7005+1G>T MANE Select NP_001258867.1:n.7005+1G>T
ENST00000251268.11:c.7005+1G>T MANE Select ENSP00000251268.5:n.7005+1G>T
NM_001271938.1:c.7005+1G>T NP_001258867.1:n.7005+1G>T
NM_001410.2:c.6804+1G>T NP_001401.2:n.6804+1G>T
NM_001410.3:c.6804+1G>T NP_001401.2:n.6804+1G>T
ENST00000251268.10:c.7005+1G>T ENSP00000251268.5:n.7005+1G>T
ENST00000334370.8:c.6804+1G>T ENSP00000334219.4:n.6804+1G>T
ENST00000378073.5:c.-81+1G>T ENSP00000367313.4:n.-81+1G>T
ENST00000593647.1:c.264+1G>T ENSP00000470620.1:n.264+1G>T
ENST00000598762.1:c.161+8147G>T