Canonical Allele Identifier: CA371199990

Gene: ARFGEF1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67227493G>A , CM000670.2:g.67227493G>A	GRCh38
NC_000008.10:g.68139728G>A , CM000670.1:g.68139728G>A	GRCh37
NC_000008.9:g.68302282G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006421.5:c.3697C>T MANE Select	NP_006412.2:p.Gln1233Ter
ENST00000262215.8:c.3697C>T MANE Select	ENSP00000262215.3:p.Gln1233Ter
NM_006421.4:c.3697C>T	NP_006412.2:p.Gln1233Ter
ENST00000262215.7:c.3697C>T	ENSP00000262215.3:p.Gln1233Ter
ENST00000518230.5:c.579C>T
ENST00000520381.5:c.2132C>T
XM_005251134.3:c.3697C>T	XP_005251191.1:p.Gln1233Ter
XM_005251134.5:c.3697C>T	XP_005251191.1:p.Gln1233Ter
XM_005251135.2:c.3697C>T	XP_005251192.1:p.Gln1233Ter
XM_005251135.4:c.3697C>T	XP_005251192.1:p.Gln1233Ter
XM_005251136.2:c.3697C>T	XP_005251193.1:p.Gln1233Ter
XM_005251136.4:c.3697C>T	XP_005251193.1:p.Gln1233Ter
XM_011517442.1:c.3097C>T	XP_011515744.1:p.Gln1033Ter