Canonical Allele Identifier: CA340223394

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454339
• MyVariant Identifiers: chr1:g.47398717T>G (hg19) ; chr1:g.46933045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933045T>G , CM000663.2:g.46933045T>G	GRCh38
NC_000001.10:g.47398717T>G , CM000663.1:g.47398717T>G	GRCh37
NC_000001.9:g.47171304T>G	NCBI36
NG_007932.1:g.13440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1225A>C MANE Select	ENSP00000311095.4:p.Ile409Leu
ENST00000310638.8:c.1225A>C	ENSP00000311095.4:p.Ile409Leu
ENST00000371904.8:c.1228A>C	ENSP00000360971.4:p.Ile410Leu
ENST00000371905.1:c.1225A>C	ENSP00000360972.1:p.Ile409Leu
ENST00000462347.5:c.931A>C	ENSP00000477495.1:p.Ile311Leu
ENST00000465874.5:c.*23A>C	ENSP00000476368.1:n.*23A>C
ENST00000468629.5:c.1127-208A>C	ENSP00000476619.1:n.1127-208A>C
ENST00000474458.5:c.743-208A>C	ENSP00000476988.1:n.743-208A>C
ENST00000475477.5:c.*82-208A>C	ENSP00000476854.1:n.*82-208A>C
NM_000778.3:c.1225A>C	NP_000769.2:p.Ile409Leu
XM_005270539.1:c.931A>C	XP_005270596.1:p.Ile311Leu
XM_011540826.1:c.1243A>C	XP_011539128.1:p.Ile415Leu
XM_011540827.1:c.949A>C	XP_011539129.1:p.Ile317Leu
XM_011540828.1:c.931A>C	XP_011539130.1:p.Ile311Leu
XR_246241.1:n.1129A>C
XR_246242.1:n.1113A>C
NM_001319155.1:c.1129A>C	NP_001306084.1:p.Ile377Leu
NM_001363587.1:c.931A>C	NP_001350516.1:p.Ile311Leu
NR_134988.1:n.930A>C
NR_134989.1:n.1121A>C
NR_134990.1:n.1178-208A>C
NR_134991.1:n.1102A>C
NR_134992.1:n.794-208A>C
NR_134993.1:n.928-208A>C
NR_134994.1:n.1137A>C
XM_017000465.1:c.913A>C	XP_016855954.1:p.Ile305Leu
XR_001737005.1:n.1266-208A>C
NM_000778.4:c.1225A>C MANE Select	NP_000769.2:p.Ile409Leu
NM_001319155.2:c.1129A>C	NP_001306084.1:p.Ile377Leu
NM_001363587.2:c.931A>C	NP_001350516.1:p.Ile311Leu
NR_134988.2:n.922A>C
NR_134989.2:n.1113A>C
NR_134990.2:n.1170-208A>C
NR_134991.2:n.1094A>C
NR_134992.2:n.786-208A>C
NR_134993.2:n.920-208A>C
NR_134994.2:n.1129A>C