Canonical Allele Identifier: CA839287
Gene: CYP4A11 HGNC NCBI

Linked Data

dbSNP Id: rs1126742
gnomAD v2: 1-47398496-A-G
gnomAD v3: 1-46932824-A-G
gnomAD v4: 1-46932824-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46932824A>G , CM000663.2:g.46932824A>G GRCh38
NC_000001.10:g.47398496A>G , CM000663.1:g.47398496A>G GRCh37
NC_000001.9:g.47171083A>G NCBI36
NG_007932.1:g.13661T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310638.9:c.1301T>C MANE Select ENSP00000311095.4:p.Phe434Ser
ENST00000310638.8:c.1301T>C ENSP00000311095.4:p.Phe434Ser
ENST00000371904.8:c.1304T>C ENSP00000360971.4:p.Phe435Ser
ENST00000371905.1:c.1301T>C ENSP00000360972.1:p.Phe434Ser
ENST00000462347.5:c.1007T>C ENSP00000477495.1:p.Phe336Ser
ENST00000465874.5:c.*99T>C ENSP00000476368.1:n.*99T>C
ENST00000468629.5:c.*6T>C ENSP00000476619.1:n.*6T>C
ENST00000474458.5:c.*6T>C ENSP00000476988.1:n.*6T>C
ENST00000475477.5:c.*95T>C ENSP00000476854.1:n.*95T>C
NM_000778.3:c.1301T>C NP_000769.2:p.Phe434Ser
XM_005270539.1:c.1007T>C XP_005270596.1:p.Phe336Ser
XM_011540826.1:c.1319T>C XP_011539128.1:p.Phe440Ser
XM_011540827.1:c.1025T>C XP_011539129.1:p.Phe342Ser
XM_011540828.1:c.1007T>C XP_011539130.1:p.Phe336Ser
XR_246241.1:n.1205T>C
XR_246242.1:n.1189T>C
NM_001319155.1:c.1205T>C NP_001306084.1:p.Phe402Ser
NM_001363587.1:c.1007T>C NP_001350516.1:p.Phe336Ser
NR_134988.1:n.1006T>C
NR_134989.1:n.1197T>C
NR_134990.1:n.1191T>C
NR_134991.1:n.1178T>C
NR_134992.1:n.807T>C
NR_134993.1:n.941T>C
NR_134994.1:n.1213T>C
XM_017000465.1:c.989T>C XP_016855954.1:p.Phe330Ser
XR_001737005.1:n.1279T>C
NM_000778.4:c.1301T>C MANE Select NP_000769.2:p.Phe434Ser
NM_001319155.2:c.1205T>C NP_001306084.1:p.Phe402Ser
NM_001363587.2:c.1007T>C NP_001350516.1:p.Phe336Ser
NR_134988.2:n.998T>C
NR_134989.2:n.1189T>C
NR_134990.2:n.1183T>C
NR_134991.2:n.1170T>C
NR_134992.2:n.799T>C
NR_134993.2:n.933T>C
NR_134994.2:n.1205T>C