Canonical Allele Identifier: CA340223221
Gene: CYP4A11 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932823G>T , CM000663.2:g.46932823G>T GRCh38
NC_000001.10:g.47398495G>T , CM000663.1:g.47398495G>T GRCh37
NC_000001.9:g.47171082G>T NCBI36
NG_007932.1:g.13662C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.1302C>A MANE Select ENSP00000311095.4:p.Phe434Leu
ENST00000310638.8:c.1302C>A ENSP00000311095.4:p.Phe434Leu
ENST00000371904.8:c.1305C>A ENSP00000360971.4:p.Phe435Leu
ENST00000371905.1:c.1302C>A ENSP00000360972.1:p.Phe434Leu
ENST00000462347.5:c.1008C>A ENSP00000477495.1:p.Phe336Leu
ENST00000465874.5:c.*100C>A ENSP00000476368.1:n.*100C>A
ENST00000468629.5:c.*7C>A ENSP00000476619.1:n.*7C>A
ENST00000474458.5:c.*7C>A ENSP00000476988.1:n.*7C>A
ENST00000475477.5:c.*96C>A ENSP00000476854.1:n.*96C>A
NM_000778.3:c.1302C>A NP_000769.2:p.Phe434Leu
XM_005270539.1:c.1008C>A XP_005270596.1:p.Phe336Leu
XM_011540826.1:c.1320C>A XP_011539128.1:p.Phe440Leu
XM_011540827.1:c.1026C>A XP_011539129.1:p.Phe342Leu
XM_011540828.1:c.1008C>A XP_011539130.1:p.Phe336Leu
XR_246241.1:n.1206C>A
XR_246242.1:n.1190C>A
NM_001319155.1:c.1206C>A NP_001306084.1:p.Phe402Leu
NM_001363587.1:c.1008C>A NP_001350516.1:p.Phe336Leu
NR_134988.1:n.1007C>A
NR_134989.1:n.1198C>A
NR_134990.1:n.1192C>A
NR_134991.1:n.1179C>A
NR_134992.1:n.808C>A
NR_134993.1:n.942C>A
NR_134994.1:n.1214C>A
XM_017000465.1:c.990C>A XP_016855954.1:p.Phe330Leu
XR_001737005.1:n.1280C>A
NM_000778.4:c.1302C>A MANE Select NP_000769.2:p.Phe434Leu
NM_001319155.2:c.1206C>A NP_001306084.1:p.Phe402Leu
NM_001363587.2:c.1008C>A NP_001350516.1:p.Phe336Leu
NR_134988.2:n.999C>A
NR_134989.2:n.1190C>A
NR_134990.2:n.1184C>A
NR_134991.2:n.1171C>A
NR_134992.2:n.800C>A
NR_134993.2:n.934C>A
NR_134994.2:n.1206C>A