Canonical Allele Identifier: CA340224541

Gene: CYP4A11

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.897A>C MANE Select	ENSP00000311095.4:p.Lys299Asn
ENST00000310638.8:c.897A>C	ENSP00000311095.4:p.Lys299Asn
ENST00000371904.8:c.900A>C	ENSP00000360971.4:p.Lys300Asn
ENST00000371905.1:c.897A>C	ENSP00000360972.1:p.Lys299Asn
ENST00000462347.5:c.742A>C	ENSP00000477495.1:p.Arg248=
ENST00000465874.5:c.609-448A>C	ENSP00000476368.1:n.609-448A>C
ENST00000468629.5:c.801A>C	ENSP00000476619.1:p.Lys267Asn
ENST00000474458.5:c.742A>C	ENSP00000476988.1:p.Ser248Arg
ENST00000475477.5:c.742A>C	ENSP00000476854.1:p.Arg248=
NM_000778.3:c.897A>C	NP_000769.2:p.Lys299Asn
XM_005270539.1:c.742A>C	XP_005270596.1:p.Arg248=
XM_011540826.1:c.915A>C	XP_011539128.1:p.Lys305Asn
XM_011540827.1:c.760A>C	XP_011539129.1:p.Arg254=
XM_011540828.1:c.603A>C	XP_011539130.1:p.Lys201Asn
XM_011540829.1:c.915A>C	XP_011539131.1:p.Lys305Asn
XM_011540830.1:c.760A>C	XP_011539132.1:p.Asn254His
XR_246241.1:n.940A>C
XR_246242.1:n.785A>C
NM_001319155.1:c.801A>C	NP_001306084.1:p.Lys267Asn
NM_001363587.1:c.742A>C	NP_001350516.1:p.Arg248=
NR_134988.1:n.793A>C
NR_134989.1:n.793A>C
NR_134990.1:n.852A>C
NR_134991.1:n.774A>C
NR_134992.1:n.793A>C
NR_134993.1:n.793A>C
NR_134994.1:n.948A>C
XM_017000465.1:c.585A>C	XP_016855954.1:p.Lys195Asn
XR_001737005.1:n.940A>C
NM_000778.4:c.897A>C MANE Select	NP_000769.2:p.Lys299Asn
NM_001319155.2:c.801A>C	NP_001306084.1:p.Lys267Asn
NM_001363587.2:c.742A>C	NP_001350516.1:p.Arg248=
NR_134988.2:n.785A>C
NR_134989.2:n.785A>C
NR_134990.2:n.844A>C
NR_134991.2:n.766A>C
NR_134992.2:n.785A>C
NR_134993.2:n.785A>C
NR_134994.2:n.940A>C