Canonical Allele Identifier: CA2645486117
Gene: CYP4A11 HGNC NCBI

Linked Data

gnomAD v4: 1-46932508-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932508C>T , CM000663.2:g.46932508C>T GRCh38
NC_000001.10:g.47398180C>T , CM000663.1:g.47398180C>T GRCh37
NC_000001.9:g.47170767C>T NCBI36
NG_007932.1:g.13977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.1364+253G>A MANE Select ENSP00000311095.4:n.1364+253G>A
ENST00000310638.8:c.1364+253G>A ENSP00000311095.4:n.1364+253G>A
ENST00000371904.8:c.1367+253G>A ENSP00000360971.4:n.1367+253G>A
ENST00000371905.1:c.*249G>A ENSP00000360972.1:n.*249G>A
ENST00000462347.5:c.1070+253G>A ENSP00000477495.1:n.1070+253G>A
ENST00000465874.5:c.*415G>A ENSP00000476368.1:n.*415G>A
ENST00000468629.5:c.*69+253G>A ENSP00000476619.1:n.*69+253G>A
ENST00000474458.5:c.*69+253G>A ENSP00000476988.1:n.*69+253G>A
ENST00000475477.5:c.*158+253G>A ENSP00000476854.1:n.*158+253G>A
NM_000778.3:c.1364+253G>A NP_000769.2:n.1364+253G>A
XM_011540826.1:c.1382+253G>A XP_011539128.1:n.1382+253G>A
XM_011540827.1:c.1088+253G>A XP_011539129.1:n.1088+253G>A
XM_011540828.1:c.1070+253G>A XP_011539130.1:n.1070+253G>A
XR_246241.1:n.1268+253G>A
XR_246242.1:n.1252+253G>A
NM_001319155.1:c.1268+253G>A NP_001306084.1:n.1268+253G>A
NM_001363587.1:c.1070+253G>A NP_001350516.1:n.1070+253G>A
NR_134988.1:n.1069+253G>A
NR_134989.1:n.1260+253G>A
NR_134990.1:n.1254+253G>A
NR_134991.1:n.1241+253G>A
NR_134992.1:n.870+253G>A
NR_134993.1:n.1004+253G>A
NR_134994.1:n.1276+253G>A
XM_017000465.1:c.1052+253G>A XP_016855954.1:n.1052+253G>A
XR_001737005.1:n.1342+253G>A
NM_000778.4:c.1364+253G>A MANE Select NP_000769.2:n.1364+253G>A
NM_001319155.2:c.1268+253G>A NP_001306084.1:n.1268+253G>A
NM_001363587.2:c.1070+253G>A NP_001350516.1:n.1070+253G>A
NR_134988.2:n.1061+253G>A
NR_134989.2:n.1252+253G>A
NR_134990.2:n.1246+253G>A
NR_134991.2:n.1233+253G>A
NR_134992.2:n.862+253G>A
NR_134993.2:n.996+253G>A
NR_134994.2:n.1268+253G>A