Canonical Allele Identifier: CA340224544
Gene: CYP4A11 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46934453T>A , CM000663.2:g.46934453T>A GRCh38
NC_000001.10:g.47400125T>A , CM000663.1:g.47400125T>A GRCh37
NC_000001.9:g.47172712T>A NCBI36
NG_007932.1:g.12032A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.897A>T MANE Select ENSP00000311095.4:p.Lys299Asn
ENST00000310638.8:c.897A>T ENSP00000311095.4:p.Lys299Asn
ENST00000371904.8:c.900A>T ENSP00000360971.4:p.Lys300Asn
ENST00000371905.1:c.897A>T ENSP00000360972.1:p.Lys299Asn
ENST00000462347.5:c.742A>T ENSP00000477495.1:p.Arg248Trp
ENST00000465874.5:c.609-448A>T ENSP00000476368.1:n.609-448A>T
ENST00000468629.5:c.801A>T ENSP00000476619.1:p.Lys267Asn
ENST00000474458.5:c.742A>T ENSP00000476988.1:p.Ser248Cys
ENST00000475477.5:c.742A>T ENSP00000476854.1:p.Arg248Ter
NM_000778.3:c.897A>T NP_000769.2:p.Lys299Asn
XM_005270539.1:c.742A>T XP_005270596.1:p.Arg248Trp
XM_011540826.1:c.915A>T XP_011539128.1:p.Lys305Asn
XM_011540827.1:c.760A>T XP_011539129.1:p.Arg254Trp
XM_011540828.1:c.603A>T XP_011539130.1:p.Lys201Asn
XM_011540829.1:c.915A>T XP_011539131.1:p.Lys305Asn
XM_011540830.1:c.760A>T XP_011539132.1:p.Asn254Tyr
XR_246241.1:n.940A>T
XR_246242.1:n.785A>T
NM_001319155.1:c.801A>T NP_001306084.1:p.Lys267Asn
NM_001363587.1:c.742A>T NP_001350516.1:p.Arg248Trp
NR_134988.1:n.793A>T
NR_134989.1:n.793A>T
NR_134990.1:n.852A>T
NR_134991.1:n.774A>T
NR_134992.1:n.793A>T
NR_134993.1:n.793A>T
NR_134994.1:n.948A>T
XM_017000465.1:c.585A>T XP_016855954.1:p.Lys195Asn
XR_001737005.1:n.940A>T
NM_000778.4:c.897A>T MANE Select NP_000769.2:p.Lys299Asn
NM_001319155.2:c.801A>T NP_001306084.1:p.Lys267Asn
NM_001363587.2:c.742A>T NP_001350516.1:p.Arg248Trp
NR_134988.2:n.785A>T
NR_134989.2:n.785A>T
NR_134990.2:n.844A>T
NR_134991.2:n.766A>T
NR_134992.2:n.785A>T
NR_134993.2:n.785A>T
NR_134994.2:n.940A>T