Canonical Allele Identifier: CA340223338

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1014674360
• MyVariant Identifiers: chr1:g.47398690G>A (hg19) ; chr1:g.46933018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933018G>A , CM000663.2:g.46933018G>A	GRCh38
NC_000001.10:g.47398690G>A , CM000663.1:g.47398690G>A	GRCh37
NC_000001.9:g.47171277G>A	NCBI36
NG_007932.1:g.13467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1252C>T MANE Select	ENSP00000311095.4:p.Leu418Phe
ENST00000310638.8:c.1252C>T	ENSP00000311095.4:p.Leu418Phe
ENST00000371904.8:c.1255C>T	ENSP00000360971.4:p.Leu419Phe
ENST00000371905.1:c.1252C>T	ENSP00000360972.1:p.Leu418Phe
ENST00000462347.5:c.958C>T	ENSP00000477495.1:p.Leu320Phe
ENST00000465874.5:c.*50C>T	ENSP00000476368.1:n.*50C>T
ENST00000468629.5:c.1127-181C>T	ENSP00000476619.1:n.1127-181C>T
ENST00000474458.5:c.743-181C>T	ENSP00000476988.1:n.743-181C>T
ENST00000475477.5:c.*82-181C>T	ENSP00000476854.1:n.*82-181C>T
NM_000778.3:c.1252C>T	NP_000769.2:p.Leu418Phe
XM_005270539.1:c.958C>T	XP_005270596.1:p.Leu320Phe
XM_011540826.1:c.1270C>T	XP_011539128.1:p.Leu424Phe
XM_011540827.1:c.976C>T	XP_011539129.1:p.Leu326Phe
XM_011540828.1:c.958C>T	XP_011539130.1:p.Leu320Phe
XR_246241.1:n.1156C>T
XR_246242.1:n.1140C>T
NM_001319155.1:c.1156C>T	NP_001306084.1:p.Leu386Phe
NM_001363587.1:c.958C>T	NP_001350516.1:p.Leu320Phe
NR_134988.1:n.957C>T
NR_134989.1:n.1148C>T
NR_134990.1:n.1178-181C>T
NR_134991.1:n.1129C>T
NR_134992.1:n.794-181C>T
NR_134993.1:n.928-181C>T
NR_134994.1:n.1164C>T
XM_017000465.1:c.940C>T	XP_016855954.1:p.Leu314Phe
XR_001737005.1:n.1266-181C>T
NM_000778.4:c.1252C>T MANE Select	NP_000769.2:p.Leu418Phe
NM_001319155.2:c.1156C>T	NP_001306084.1:p.Leu386Phe
NM_001363587.2:c.958C>T	NP_001350516.1:p.Leu320Phe
NR_134988.2:n.949C>T
NR_134989.2:n.1140C>T
NR_134990.2:n.1170-181C>T
NR_134991.2:n.1121C>T
NR_134992.2:n.786-181C>T
NR_134993.2:n.920-181C>T
NR_134994.2:n.1156C>T