Canonical Allele Identifier: CA340223108
Gene: CYP4A11 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.1355G>T MANE Select ENSP00000311095.4:p.Gly452Val
ENST00000310638.8:c.1355G>T ENSP00000311095.4:p.Gly452Val
ENST00000371904.8:c.1358G>T ENSP00000360971.4:p.Gly453Val
ENST00000371905.1:c.1355G>T ENSP00000360972.1:p.Gly452Val
ENST00000462347.5:c.1061G>T ENSP00000477495.1:p.Gly354Val
ENST00000465874.5:c.*153G>T ENSP00000476368.1:n.*153G>T
ENST00000468629.5:c.*60G>T ENSP00000476619.1:n.*60G>T
ENST00000474458.5:c.*60G>T ENSP00000476988.1:n.*60G>T
ENST00000475477.5:c.*149G>T ENSP00000476854.1:n.*149G>T
NM_000778.3:c.1355G>T NP_000769.2:p.Gly452Val
XM_005270539.1:c.1061G>T XP_005270596.1:p.Gly354Val
XM_011540826.1:c.1373G>T XP_011539128.1:p.Gly458Val
XM_011540827.1:c.1079G>T XP_011539129.1:p.Gly360Val
XM_011540828.1:c.1061G>T XP_011539130.1:p.Gly354Val
XR_246241.1:n.1259G>T
XR_246242.1:n.1243G>T
NM_001319155.1:c.1259G>T NP_001306084.1:p.Gly420Val
NM_001363587.1:c.1061G>T NP_001350516.1:p.Gly354Val
NR_134988.1:n.1060G>T
NR_134989.1:n.1251G>T
NR_134990.1:n.1245G>T
NR_134991.1:n.1232G>T
NR_134992.1:n.861G>T
NR_134993.1:n.995G>T
NR_134994.1:n.1267G>T
XM_017000465.1:c.1043G>T XP_016855954.1:p.Gly348Val
XR_001737005.1:n.1333G>T
NM_000778.4:c.1355G>T MANE Select NP_000769.2:p.Gly452Val
NM_001319155.2:c.1259G>T NP_001306084.1:p.Gly420Val
NM_001363587.2:c.1061G>T NP_001350516.1:p.Gly354Val
NR_134988.2:n.1052G>T
NR_134989.2:n.1243G>T
NR_134990.2:n.1237G>T
NR_134991.2:n.1224G>T
NR_134992.2:n.853G>T
NR_134993.2:n.987G>T
NR_134994.2:n.1259G>T