Canonical Allele Identifier: CA371215954

Gene: ARFGEF1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67266187G>A , CM000670.2:g.67266187G>A	GRCh38
NC_000008.10:g.68178422G>A , CM000670.1:g.68178422G>A	GRCh37
NC_000008.9:g.68340976G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006421.5:c.1942C>T MANE Select	NP_006412.2:p.Gln648Ter
ENST00000262215.8:c.1942C>T MANE Select	ENSP00000262215.3:p.Gln648Ter
NM_006421.4:c.1942C>T	NP_006412.2:p.Gln648Ter
ENST00000262215.7:c.1942C>T	ENSP00000262215.3:p.Gln648Ter
ENST00000520381.5:c.377C>T
XM_005251134.3:c.1942C>T	XP_005251191.1:p.Gln648Ter
XM_005251134.5:c.1942C>T	XP_005251191.1:p.Gln648Ter
XM_005251135.2:c.1942C>T	XP_005251192.1:p.Gln648Ter
XM_005251135.4:c.1942C>T	XP_005251192.1:p.Gln648Ter
XM_005251136.2:c.1942C>T	XP_005251193.1:p.Gln648Ter
XM_005251136.4:c.1942C>T	XP_005251193.1:p.Gln648Ter
XM_011517442.1:c.1342C>T	XP_011515744.1:p.Gln448Ter