Canonical Allele Identifier: CA371214129

Gene: ARFGEF1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67258134C>T , CM000670.2:g.67258134C>T	GRCh38
NC_000008.10:g.68170369C>T , CM000670.1:g.68170369C>T	GRCh37
NC_000008.9:g.68332923C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006421.5:c.2392G>A MANE Select	NP_006412.2:p.Asp798Asn
ENST00000262215.8:c.2392G>A MANE Select	ENSP00000262215.3:p.Asp798Asn
NM_006421.4:c.2392G>A	NP_006412.2:p.Asp798Asn
ENST00000262215.7:c.2392G>A	ENSP00000262215.3:p.Asp798Asn
ENST00000520381.5:c.827G>A
XM_005251134.3:c.2392G>A	XP_005251191.1:p.Asp798Asn
XM_005251134.5:c.2392G>A	XP_005251191.1:p.Asp798Asn
XM_005251135.2:c.2392G>A	XP_005251192.1:p.Asp798Asn
XM_005251135.4:c.2392G>A	XP_005251192.1:p.Asp798Asn
XM_005251136.2:c.2392G>A	XP_005251193.1:p.Asp798Asn
XM_005251136.4:c.2392G>A	XP_005251193.1:p.Asp798Asn
XM_011517442.1:c.1792G>A	XP_011515744.1:p.Asp598Asn