Canonical Allele Identifier: CA340223090
Gene: CYP4A11 HGNC NCBI

Linked Data

dbSNP Id: rs1211676821
gnomAD v3: 1-46932760-C-A
gnomAD v4: 1-46932760-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932760C>A , CM000663.2:g.46932760C>A GRCh38
NC_000001.10:g.47398432C>A , CM000663.1:g.47398432C>A GRCh37
NC_000001.9:g.47171019C>A NCBI36
NG_007932.1:g.13725G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310638.9:c.1364+1G>T MANE Select ENSP00000311095.4:n.1364+1G>T
ENST00000310638.8:c.1364+1G>T ENSP00000311095.4:n.1364+1G>T
ENST00000371904.8:c.1367+1G>T ENSP00000360971.4:n.1367+1G>T
ENST00000371905.1:c.1365G>T ENSP00000360972.1:p.Arg455Ser
ENST00000462347.5:c.1070+1G>T ENSP00000477495.1:n.1070+1G>T
ENST00000465874.5:c.*163G>T ENSP00000476368.1:n.*163G>T
ENST00000468629.5:c.*69+1G>T ENSP00000476619.1:n.*69+1G>T
ENST00000474458.5:c.*69+1G>T ENSP00000476988.1:n.*69+1G>T
ENST00000475477.5:c.*158+1G>T ENSP00000476854.1:n.*158+1G>T
NM_000778.3:c.1364+1G>T NP_000769.2:n.1364+1G>T
XM_005270539.1:c.1071G>T XP_005270596.1:p.Arg357Ser
XM_011540826.1:c.1382+1G>T XP_011539128.1:n.1382+1G>T
XM_011540827.1:c.1088+1G>T XP_011539129.1:n.1088+1G>T
XM_011540828.1:c.1070+1G>T XP_011539130.1:n.1070+1G>T
XR_246241.1:n.1268+1G>T
XR_246242.1:n.1252+1G>T
NM_001319155.1:c.1268+1G>T NP_001306084.1:n.1268+1G>T
NM_001363587.1:c.1070+1G>T NP_001350516.1:n.1070+1G>T
NR_134988.1:n.1069+1G>T
NR_134989.1:n.1260+1G>T
NR_134990.1:n.1254+1G>T
NR_134991.1:n.1241+1G>T
NR_134992.1:n.870+1G>T
NR_134993.1:n.1004+1G>T
NR_134994.1:n.1276+1G>T
XM_017000465.1:c.1052+1G>T XP_016855954.1:n.1052+1G>T
XR_001737005.1:n.1342+1G>T
NM_000778.4:c.1364+1G>T MANE Select NP_000769.2:n.1364+1G>T
NM_001319155.2:c.1268+1G>T NP_001306084.1:n.1268+1G>T
NM_001363587.2:c.1070+1G>T NP_001350516.1:n.1070+1G>T
NR_134988.2:n.1061+1G>T
NR_134989.2:n.1252+1G>T
NR_134990.2:n.1246+1G>T
NR_134991.2:n.1233+1G>T
NR_134992.2:n.862+1G>T
NR_134993.2:n.996+1G>T
NR_134994.2:n.1268+1G>T