Canonical Allele Identifier: CA417755782

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398455G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932783G>A , CM000663.2:g.46932783G>A	GRCh38
NC_000001.10:g.47398455G>A , CM000663.1:g.47398455G>A	GRCh37
NC_000001.9:g.47171042G>A	NCBI36
NG_007932.1:g.13702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1342C>T MANE Select	ENSP00000311095.4:p.Leu448=
ENST00000310638.8:c.1342C>T	ENSP00000311095.4:p.Leu448=
ENST00000371904.8:c.1345C>T	ENSP00000360971.4:p.Leu449=
ENST00000371905.1:c.1342C>T	ENSP00000360972.1:p.Leu448=
ENST00000462347.5:c.1048C>T	ENSP00000477495.1:p.Leu350=
ENST00000465874.5:c.*140C>T	ENSP00000476368.1:n.*140C>T
ENST00000468629.5:c.*47C>T	ENSP00000476619.1:n.*47C>T
ENST00000474458.5:c.*47C>T	ENSP00000476988.1:n.*47C>T
ENST00000475477.5:c.*136C>T	ENSP00000476854.1:n.*136C>T
NM_000778.3:c.1342C>T	NP_000769.2:p.Leu448=
XM_005270539.1:c.1048C>T	XP_005270596.1:p.Leu350=
XM_011540826.1:c.1360C>T	XP_011539128.1:p.Leu454=
XM_011540827.1:c.1066C>T	XP_011539129.1:p.Leu356=
XM_011540828.1:c.1048C>T	XP_011539130.1:p.Leu350=
XR_246241.1:n.1246C>T
XR_246242.1:n.1230C>T
NM_001319155.1:c.1246C>T	NP_001306084.1:p.Leu416=
NM_001363587.1:c.1048C>T	NP_001350516.1:p.Leu350=
NR_134988.1:n.1047C>T
NR_134989.1:n.1238C>T
NR_134990.1:n.1232C>T
NR_134991.1:n.1219C>T
NR_134992.1:n.848C>T
NR_134993.1:n.982C>T
NR_134994.1:n.1254C>T
XM_017000465.1:c.1030C>T	XP_016855954.1:p.Leu344=
XR_001737005.1:n.1320C>T
NM_000778.4:c.1342C>T MANE Select	NP_000769.2:p.Leu448=
NM_001319155.2:c.1246C>T	NP_001306084.1:p.Leu416=
NM_001363587.2:c.1048C>T	NP_001350516.1:p.Leu350=
NR_134988.2:n.1039C>T
NR_134989.2:n.1230C>T
NR_134990.2:n.1224C>T
NR_134991.2:n.1211C>T
NR_134992.2:n.840C>T
NR_134993.2:n.974C>T
NR_134994.2:n.1246C>T