Canonical Allele Identifier: CA340223112
Gene: CYP4A11 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932771C>T , CM000663.2:g.46932771C>T GRCh38
NC_000001.10:g.47398443C>T , CM000663.1:g.47398443C>T GRCh37
NC_000001.9:g.47171030C>T NCBI36
NG_007932.1:g.13714G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.1354G>A MANE Select ENSP00000311095.4:p.Gly452Arg
ENST00000310638.8:c.1354G>A ENSP00000311095.4:p.Gly452Arg
ENST00000371904.8:c.1357G>A ENSP00000360971.4:p.Gly453Arg
ENST00000371905.1:c.1354G>A ENSP00000360972.1:p.Gly452Arg
ENST00000462347.5:c.1060G>A ENSP00000477495.1:p.Gly354Arg
ENST00000465874.5:c.*152G>A ENSP00000476368.1:n.*152G>A
ENST00000468629.5:c.*59G>A ENSP00000476619.1:n.*59G>A
ENST00000474458.5:c.*59G>A ENSP00000476988.1:n.*59G>A
ENST00000475477.5:c.*148G>A ENSP00000476854.1:n.*148G>A
NM_000778.3:c.1354G>A NP_000769.2:p.Gly452Arg
XM_005270539.1:c.1060G>A XP_005270596.1:p.Gly354Arg
XM_011540826.1:c.1372G>A XP_011539128.1:p.Gly458Arg
XM_011540827.1:c.1078G>A XP_011539129.1:p.Gly360Arg
XM_011540828.1:c.1060G>A XP_011539130.1:p.Gly354Arg
XR_246241.1:n.1258G>A
XR_246242.1:n.1242G>A
NM_001319155.1:c.1258G>A NP_001306084.1:p.Gly420Arg
NM_001363587.1:c.1060G>A NP_001350516.1:p.Gly354Arg
NR_134988.1:n.1059G>A
NR_134989.1:n.1250G>A
NR_134990.1:n.1244G>A
NR_134991.1:n.1231G>A
NR_134992.1:n.860G>A
NR_134993.1:n.994G>A
NR_134994.1:n.1266G>A
XM_017000465.1:c.1042G>A XP_016855954.1:p.Gly348Arg
XR_001737005.1:n.1332G>A
NM_000778.4:c.1354G>A MANE Select NP_000769.2:p.Gly452Arg
NM_001319155.2:c.1258G>A NP_001306084.1:p.Gly420Arg
NM_001363587.2:c.1060G>A NP_001350516.1:p.Gly354Arg
NR_134988.2:n.1051G>A
NR_134989.2:n.1242G>A
NR_134990.2:n.1236G>A
NR_134991.2:n.1223G>A
NR_134992.2:n.852G>A
NR_134993.2:n.986G>A
NR_134994.2:n.1258G>A