Canonical Allele Identifier: CA340223243

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1457599116
• gnomAD v2: 1-47398505-A-T
• gnomAD v4: 1-46932833-A-T
• MyVariant Identifiers: chr1:g.47398505A>T (hg19) ; chr1:g.46932833A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1292T>A MANE Select	ENSP00000311095.4:p.Phe431Tyr
ENST00000310638.8:c.1292T>A	ENSP00000311095.4:p.Phe431Tyr
ENST00000371904.8:c.1295T>A	ENSP00000360971.4:p.Phe432Tyr
ENST00000371905.1:c.1292T>A	ENSP00000360972.1:p.Phe431Tyr
ENST00000462347.5:c.998T>A	ENSP00000477495.1:p.Phe333Tyr
ENST00000465874.5:c.*90T>A	ENSP00000476368.1:n.*90T>A
ENST00000468629.5:c.1131T>A	ENSP00000476619.1:p.Val377=
ENST00000474458.5:c.747T>A	ENSP00000476988.1:p.Val249=
ENST00000475477.5:c.*86T>A	ENSP00000476854.1:n.*86T>A
NM_000778.3:c.1292T>A	NP_000769.2:p.Phe431Tyr
XM_005270539.1:c.998T>A	XP_005270596.1:p.Phe333Tyr
XM_011540826.1:c.1310T>A	XP_011539128.1:p.Phe437Tyr
XM_011540827.1:c.1016T>A	XP_011539129.1:p.Phe339Tyr
XM_011540828.1:c.998T>A	XP_011539130.1:p.Phe333Tyr
XR_246241.1:n.1196T>A
XR_246242.1:n.1180T>A
NM_001319155.1:c.1196T>A	NP_001306084.1:p.Phe399Tyr
NM_001363587.1:c.998T>A	NP_001350516.1:p.Phe333Tyr
NR_134988.1:n.997T>A
NR_134989.1:n.1188T>A
NR_134990.1:n.1182T>A
NR_134991.1:n.1169T>A
NR_134992.1:n.798T>A
NR_134993.1:n.932T>A
NR_134994.1:n.1204T>A
XM_017000465.1:c.980T>A	XP_016855954.1:p.Phe327Tyr
XR_001737005.1:n.1270T>A
NM_000778.4:c.1292T>A MANE Select	NP_000769.2:p.Phe431Tyr
NM_001319155.2:c.1196T>A	NP_001306084.1:p.Phe399Tyr
NM_001363587.2:c.998T>A	NP_001350516.1:p.Phe333Tyr
NR_134988.2:n.989T>A
NR_134989.2:n.1180T>A
NR_134990.2:n.1174T>A
NR_134991.2:n.1161T>A
NR_134992.2:n.790T>A
NR_134993.2:n.924T>A
NR_134994.2:n.1196T>A