Canonical Allele Identifier: CA417755767
Gene: CYP4A11 HGNC NCBI

Linked Data

dbSNP Id: rs1681102944
gnomAD v3: 1-46932778-G-A
gnomAD v4: 1-46932778-G-A
MyVariant Identifiers: chr1:g.47398450G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932778G>A , CM000663.2:g.46932778G>A GRCh38
NC_000001.10:g.47398450G>A , CM000663.1:g.47398450G>A GRCh37
NC_000001.9:g.47171037G>A NCBI36
NG_007932.1:g.13707C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310638.9:c.1347C>T MANE Select ENSP00000311095.4:p.Pro449=
ENST00000310638.8:c.1347C>T ENSP00000311095.4:p.Pro449=
ENST00000371904.8:c.1350C>T ENSP00000360971.4:p.Pro450=
ENST00000371905.1:c.1347C>T ENSP00000360972.1:p.Pro449=
ENST00000462347.5:c.1053C>T ENSP00000477495.1:p.Pro351=
ENST00000465874.5:c.*145C>T ENSP00000476368.1:n.*145C>T
ENST00000468629.5:c.*52C>T ENSP00000476619.1:n.*52C>T
ENST00000474458.5:c.*52C>T ENSP00000476988.1:n.*52C>T
ENST00000475477.5:c.*141C>T ENSP00000476854.1:n.*141C>T
NM_000778.3:c.1347C>T NP_000769.2:p.Pro449=
XM_005270539.1:c.1053C>T XP_005270596.1:p.Pro351=
XM_011540826.1:c.1365C>T XP_011539128.1:p.Pro455=
XM_011540827.1:c.1071C>T XP_011539129.1:p.Pro357=
XM_011540828.1:c.1053C>T XP_011539130.1:p.Pro351=
XR_246241.1:n.1251C>T
XR_246242.1:n.1235C>T
NM_001319155.1:c.1251C>T NP_001306084.1:p.Pro417=
NM_001363587.1:c.1053C>T NP_001350516.1:p.Pro351=
NR_134988.1:n.1052C>T
NR_134989.1:n.1243C>T
NR_134990.1:n.1237C>T
NR_134991.1:n.1224C>T
NR_134992.1:n.853C>T
NR_134993.1:n.987C>T
NR_134994.1:n.1259C>T
XM_017000465.1:c.1035C>T XP_016855954.1:p.Pro345=
XR_001737005.1:n.1325C>T
NM_000778.4:c.1347C>T MANE Select NP_000769.2:p.Pro449=
NM_001319155.2:c.1251C>T NP_001306084.1:p.Pro417=
NM_001363587.2:c.1053C>T NP_001350516.1:p.Pro351=
NR_134988.2:n.1044C>T
NR_134989.2:n.1235C>T
NR_134990.2:n.1229C>T
NR_134991.2:n.1216C>T
NR_134992.2:n.845C>T
NR_134993.2:n.979C>T
NR_134994.2:n.1251C>T