Canonical Allele Identifier: CA2171763

Gene: NGEF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232920493C>T , CM000664.2:g.232920493C>T	GRCh38
NC_000002.11:g.233785203C>T , CM000664.1:g.233785203C>T	GRCh37
NC_000002.10:g.233493447C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264051.8:c.619G>A MANE Select	ENSP00000264051.3:p.Gly207Arg
ENST00000264051.7:c.619G>A	ENSP00000264051.3:p.Gly207Arg
ENST00000373552.8:c.343G>A	ENSP00000362653.4:p.Gly115Arg
ENST00000409079.1:c.343G>A	ENSP00000387033.1:p.Gly115Arg
NM_001114090.1:c.343G>A	NP_001107562.1:p.Gly115Arg
NM_019850.2:c.619G>A	NP_062824.2:p.Gly207Arg
XM_011510923.1:c.619G>A	XP_011509225.1:p.Gly207Arg
XM_011510923.3:c.619G>A	XP_011509225.1:p.Gly207Arg
NM_019850.3:c.619G>A MANE Select	NP_062824.2:p.Gly207Arg
NM_001114090.2:c.343G>A	NP_001107562.1:p.Gly115Arg