Canonical Allele Identifier: CA340223242

Gene: CYP4A11

Linked Data

• COSMIC: COSM4568723
• MyVariant Identifiers: chr1:g.47398505A>G (hg19) ; chr1:g.46932833A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932833A>G , CM000663.2:g.46932833A>G	GRCh38
NC_000001.10:g.47398505A>G , CM000663.1:g.47398505A>G	GRCh37
NC_000001.9:g.47171092A>G	NCBI36
NG_007932.1:g.13652T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1292T>C MANE Select	ENSP00000311095.4:p.Phe431Ser
ENST00000310638.8:c.1292T>C	ENSP00000311095.4:p.Phe431Ser
ENST00000371904.8:c.1295T>C	ENSP00000360971.4:p.Phe432Ser
ENST00000371905.1:c.1292T>C	ENSP00000360972.1:p.Phe431Ser
ENST00000462347.5:c.998T>C	ENSP00000477495.1:p.Phe333Ser
ENST00000465874.5:c.*90T>C	ENSP00000476368.1:n.*90T>C
ENST00000468629.5:c.1131T>C	ENSP00000476619.1:p.Val377=
ENST00000474458.5:c.747T>C	ENSP00000476988.1:p.Val249=
ENST00000475477.5:c.*86T>C	ENSP00000476854.1:n.*86T>C
NM_000778.3:c.1292T>C	NP_000769.2:p.Phe431Ser
XM_005270539.1:c.998T>C	XP_005270596.1:p.Phe333Ser
XM_011540826.1:c.1310T>C	XP_011539128.1:p.Phe437Ser
XM_011540827.1:c.1016T>C	XP_011539129.1:p.Phe339Ser
XM_011540828.1:c.998T>C	XP_011539130.1:p.Phe333Ser
XR_246241.1:n.1196T>C
XR_246242.1:n.1180T>C
NM_001319155.1:c.1196T>C	NP_001306084.1:p.Phe399Ser
NM_001363587.1:c.998T>C	NP_001350516.1:p.Phe333Ser
NR_134988.1:n.997T>C
NR_134989.1:n.1188T>C
NR_134990.1:n.1182T>C
NR_134991.1:n.1169T>C
NR_134992.1:n.798T>C
NR_134993.1:n.932T>C
NR_134994.1:n.1204T>C
XM_017000465.1:c.980T>C	XP_016855954.1:p.Phe327Ser
XR_001737005.1:n.1270T>C
NM_000778.4:c.1292T>C MANE Select	NP_000769.2:p.Phe431Ser
NM_001319155.2:c.1196T>C	NP_001306084.1:p.Phe399Ser
NM_001363587.2:c.998T>C	NP_001350516.1:p.Phe333Ser
NR_134988.2:n.989T>C
NR_134989.2:n.1180T>C
NR_134990.2:n.1174T>C
NR_134991.2:n.1161T>C
NR_134992.2:n.790T>C
NR_134993.2:n.924T>C
NR_134994.2:n.1196T>C