Canonical Allele Identifier: CA340223136

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398455G>C (hg19) ; chr1:g.46932783G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1342C>G MANE Select	ENSP00000311095.4:p.Leu448Val
ENST00000310638.8:c.1342C>G	ENSP00000311095.4:p.Leu448Val
ENST00000371904.8:c.1345C>G	ENSP00000360971.4:p.Leu449Val
ENST00000371905.1:c.1342C>G	ENSP00000360972.1:p.Leu448Val
ENST00000462347.5:c.1048C>G	ENSP00000477495.1:p.Leu350Val
ENST00000465874.5:c.*140C>G	ENSP00000476368.1:n.*140C>G
ENST00000468629.5:c.*47C>G	ENSP00000476619.1:n.*47C>G
ENST00000474458.5:c.*47C>G	ENSP00000476988.1:n.*47C>G
ENST00000475477.5:c.*136C>G	ENSP00000476854.1:n.*136C>G
NM_000778.3:c.1342C>G	NP_000769.2:p.Leu448Val
XM_005270539.1:c.1048C>G	XP_005270596.1:p.Leu350Val
XM_011540826.1:c.1360C>G	XP_011539128.1:p.Leu454Val
XM_011540827.1:c.1066C>G	XP_011539129.1:p.Leu356Val
XM_011540828.1:c.1048C>G	XP_011539130.1:p.Leu350Val
XR_246241.1:n.1246C>G
XR_246242.1:n.1230C>G
NM_001319155.1:c.1246C>G	NP_001306084.1:p.Leu416Val
NM_001363587.1:c.1048C>G	NP_001350516.1:p.Leu350Val
NR_134988.1:n.1047C>G
NR_134989.1:n.1238C>G
NR_134990.1:n.1232C>G
NR_134991.1:n.1219C>G
NR_134992.1:n.848C>G
NR_134993.1:n.982C>G
NR_134994.1:n.1254C>G
XM_017000465.1:c.1030C>G	XP_016855954.1:p.Leu344Val
XR_001737005.1:n.1320C>G
NM_000778.4:c.1342C>G MANE Select	NP_000769.2:p.Leu448Val
NM_001319155.2:c.1246C>G	NP_001306084.1:p.Leu416Val
NM_001363587.2:c.1048C>G	NP_001350516.1:p.Leu350Val
NR_134988.2:n.1039C>G
NR_134989.2:n.1230C>G
NR_134990.2:n.1224C>G
NR_134991.2:n.1211C>G
NR_134992.2:n.840C>G
NR_134993.2:n.974C>G
NR_134994.2:n.1246C>G