Canonical Allele Identifier: CA340223098
Gene: CYP4A11 HGNC NCBI

Linked Data

dbSNP Id: rs2148453332
gnomAD v4: 1-46932764-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932764G>A , CM000663.2:g.46932764G>A GRCh38
NC_000001.10:g.47398436G>A , CM000663.1:g.47398436G>A GRCh37
NC_000001.9:g.47171023G>A NCBI36
NG_007932.1:g.13721C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310638.9:c.1361C>T MANE Select ENSP00000311095.4:p.Ser454Leu
ENST00000310638.8:c.1361C>T ENSP00000311095.4:p.Ser454Leu
ENST00000371904.8:c.1364C>T ENSP00000360971.4:p.Ser455Leu
ENST00000371905.1:c.1361C>T ENSP00000360972.1:p.Ser454Leu
ENST00000462347.5:c.1067C>T ENSP00000477495.1:p.Ser356Leu
ENST00000465874.5:c.*159C>T ENSP00000476368.1:n.*159C>T
ENST00000468629.5:c.*66C>T ENSP00000476619.1:n.*66C>T
ENST00000474458.5:c.*66C>T ENSP00000476988.1:n.*66C>T
ENST00000475477.5:c.*155C>T ENSP00000476854.1:n.*155C>T
NM_000778.3:c.1361C>T NP_000769.2:p.Ser454Leu
XM_005270539.1:c.1067C>T XP_005270596.1:p.Ser356Leu
XM_011540826.1:c.1379C>T XP_011539128.1:p.Ser460Leu
XM_011540827.1:c.1085C>T XP_011539129.1:p.Ser362Leu
XM_011540828.1:c.1067C>T XP_011539130.1:p.Ser356Leu
XR_246241.1:n.1265C>T
XR_246242.1:n.1249C>T
NM_001319155.1:c.1265C>T NP_001306084.1:p.Ser422Leu
NM_001363587.1:c.1067C>T NP_001350516.1:p.Ser356Leu
NR_134988.1:n.1066C>T
NR_134989.1:n.1257C>T
NR_134990.1:n.1251C>T
NR_134991.1:n.1238C>T
NR_134992.1:n.867C>T
NR_134993.1:n.1001C>T
NR_134994.1:n.1273C>T
XM_017000465.1:c.1049C>T XP_016855954.1:p.Ser350Leu
XR_001737005.1:n.1339C>T
NM_000778.4:c.1361C>T MANE Select NP_000769.2:p.Ser454Leu
NM_001319155.2:c.1265C>T NP_001306084.1:p.Ser422Leu
NM_001363587.2:c.1067C>T NP_001350516.1:p.Ser356Leu
NR_134988.2:n.1058C>T
NR_134989.2:n.1249C>T
NR_134990.2:n.1243C>T
NR_134991.2:n.1230C>T
NR_134992.2:n.859C>T
NR_134993.2:n.993C>T
NR_134994.2:n.1265C>T