Canonical Allele Identifier: CA340223110

Gene: CYP4A11

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932770C>T , CM000663.2:g.46932770C>T	GRCh38
NC_000001.10:g.47398442C>T , CM000663.1:g.47398442C>T	GRCh37
NC_000001.9:g.47171029C>T	NCBI36
NG_007932.1:g.13715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1355G>A MANE Select	ENSP00000311095.4:p.Gly452Glu
ENST00000310638.8:c.1355G>A	ENSP00000311095.4:p.Gly452Glu
ENST00000371904.8:c.1358G>A	ENSP00000360971.4:p.Gly453Glu
ENST00000371905.1:c.1355G>A	ENSP00000360972.1:p.Gly452Glu
ENST00000462347.5:c.1061G>A	ENSP00000477495.1:p.Gly354Glu
ENST00000465874.5:c.*153G>A	ENSP00000476368.1:n.*153G>A
ENST00000468629.5:c.*60G>A	ENSP00000476619.1:n.*60G>A
ENST00000474458.5:c.*60G>A	ENSP00000476988.1:n.*60G>A
ENST00000475477.5:c.*149G>A	ENSP00000476854.1:n.*149G>A
NM_000778.3:c.1355G>A	NP_000769.2:p.Gly452Glu
XM_005270539.1:c.1061G>A	XP_005270596.1:p.Gly354Glu
XM_011540826.1:c.1373G>A	XP_011539128.1:p.Gly458Glu
XM_011540827.1:c.1079G>A	XP_011539129.1:p.Gly360Glu
XM_011540828.1:c.1061G>A	XP_011539130.1:p.Gly354Glu
XR_246241.1:n.1259G>A
XR_246242.1:n.1243G>A
NM_001319155.1:c.1259G>A	NP_001306084.1:p.Gly420Glu
NM_001363587.1:c.1061G>A	NP_001350516.1:p.Gly354Glu
NR_134988.1:n.1060G>A
NR_134989.1:n.1251G>A
NR_134990.1:n.1245G>A
NR_134991.1:n.1232G>A
NR_134992.1:n.861G>A
NR_134993.1:n.995G>A
NR_134994.1:n.1267G>A
XM_017000465.1:c.1043G>A	XP_016855954.1:p.Gly348Glu
XR_001737005.1:n.1333G>A
NM_000778.4:c.1355G>A MANE Select	NP_000769.2:p.Gly452Glu
NM_001319155.2:c.1259G>A	NP_001306084.1:p.Gly420Glu
NM_001363587.2:c.1061G>A	NP_001350516.1:p.Gly354Glu
NR_134988.2:n.1052G>A
NR_134989.2:n.1243G>A
NR_134990.2:n.1237G>A
NR_134991.2:n.1224G>A
NR_134992.2:n.853G>A
NR_134993.2:n.987G>A
NR_134994.2:n.1259G>A