Canonical Allele Identifier: CA2171764

Gene: NGEF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232920522T>C , CM000664.2:g.232920522T>C	GRCh38
NC_000002.11:g.233785232T>C , CM000664.1:g.233785232T>C	GRCh37
NC_000002.10:g.233493476T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264051.8:c.590A>G MANE Select	ENSP00000264051.3:p.Gln197Arg
ENST00000264051.7:c.590A>G	ENSP00000264051.3:p.Gln197Arg
ENST00000373552.8:c.314A>G	ENSP00000362653.4:p.Gln105Arg
ENST00000409079.1:c.314A>G	ENSP00000387033.1:p.Gln105Arg
NM_001114090.1:c.314A>G	NP_001107562.1:p.Gln105Arg
NM_019850.2:c.590A>G	NP_062824.2:p.Gln197Arg
XM_011510923.1:c.590A>G	XP_011509225.1:p.Gln197Arg
XM_011510923.3:c.590A>G	XP_011509225.1:p.Gln197Arg
NM_019850.3:c.590A>G MANE Select	NP_062824.2:p.Gln197Arg
NM_001114090.2:c.314A>G	NP_001107562.1:p.Gln105Arg