Canonical Allele Identifier: CA417755776

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398453C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932781C>G , CM000663.2:g.46932781C>G	GRCh38
NC_000001.10:g.47398453C>G , CM000663.1:g.47398453C>G	GRCh37
NC_000001.9:g.47171040C>G	NCBI36
NG_007932.1:g.13704G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1344G>C MANE Select	ENSP00000311095.4:p.Leu448=
ENST00000310638.8:c.1344G>C	ENSP00000311095.4:p.Leu448=
ENST00000371904.8:c.1347G>C	ENSP00000360971.4:p.Leu449=
ENST00000371905.1:c.1344G>C	ENSP00000360972.1:p.Leu448=
ENST00000462347.5:c.1050G>C	ENSP00000477495.1:p.Leu350=
ENST00000465874.5:c.*142G>C	ENSP00000476368.1:n.*142G>C
ENST00000468629.5:c.*49G>C	ENSP00000476619.1:n.*49G>C
ENST00000474458.5:c.*49G>C	ENSP00000476988.1:n.*49G>C
ENST00000475477.5:c.*138G>C	ENSP00000476854.1:n.*138G>C
NM_000778.3:c.1344G>C	NP_000769.2:p.Leu448=
XM_005270539.1:c.1050G>C	XP_005270596.1:p.Leu350=
XM_011540826.1:c.1362G>C	XP_011539128.1:p.Leu454=
XM_011540827.1:c.1068G>C	XP_011539129.1:p.Leu356=
XM_011540828.1:c.1050G>C	XP_011539130.1:p.Leu350=
XR_246241.1:n.1248G>C
XR_246242.1:n.1232G>C
NM_001319155.1:c.1248G>C	NP_001306084.1:p.Leu416=
NM_001363587.1:c.1050G>C	NP_001350516.1:p.Leu350=
NR_134988.1:n.1049G>C
NR_134989.1:n.1240G>C
NR_134990.1:n.1234G>C
NR_134991.1:n.1221G>C
NR_134992.1:n.850G>C
NR_134993.1:n.984G>C
NR_134994.1:n.1256G>C
XM_017000465.1:c.1032G>C	XP_016855954.1:p.Leu344=
XR_001737005.1:n.1322G>C
NM_000778.4:c.1344G>C MANE Select	NP_000769.2:p.Leu448=
NM_001319155.2:c.1248G>C	NP_001306084.1:p.Leu416=
NM_001363587.2:c.1050G>C	NP_001350516.1:p.Leu350=
NR_134988.2:n.1041G>C
NR_134989.2:n.1232G>C
NR_134990.2:n.1226G>C
NR_134991.2:n.1213G>C
NR_134992.2:n.842G>C
NR_134993.2:n.976G>C
NR_134994.2:n.1248G>C