Canonical Allele Identifier: CA839283

Gene: CYP4A11

Linked Data

• dbSNP Id: rs779699972
• ExAC: 1:47398489 A / G
• gnomAD v2: 1-47398489-A-G
• MyVariant Identifiers: chr1:g.47398489A>G (hg19) ; chr1:g.46932817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932817A>G , CM000663.2:g.46932817A>G	GRCh38
NC_000001.10:g.47398489A>G , CM000663.1:g.47398489A>G	GRCh37
NC_000001.9:g.47171076A>G	NCBI36
NG_007932.1:g.13668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1308T>C MANE Select	ENSP00000311095.4:p.Phe436=
ENST00000310638.8:c.1308T>C	ENSP00000311095.4:p.Phe436=
ENST00000371904.8:c.1311T>C	ENSP00000360971.4:p.Phe437=
ENST00000371905.1:c.1308T>C	ENSP00000360972.1:p.Phe436=
ENST00000462347.5:c.1014T>C	ENSP00000477495.1:p.Phe338=
ENST00000465874.5:c.*106T>C	ENSP00000476368.1:n.*106T>C
ENST00000468629.5:c.*13T>C	ENSP00000476619.1:n.*13T>C
ENST00000474458.5:c.*13T>C	ENSP00000476988.1:n.*13T>C
ENST00000475477.5:c.*102T>C	ENSP00000476854.1:n.*102T>C
NM_000778.3:c.1308T>C	NP_000769.2:p.Phe436=
XM_005270539.1:c.1014T>C	XP_005270596.1:p.Phe338=
XM_011540826.1:c.1326T>C	XP_011539128.1:p.Phe442=
XM_011540827.1:c.1032T>C	XP_011539129.1:p.Phe344=
XM_011540828.1:c.1014T>C	XP_011539130.1:p.Phe338=
XR_246241.1:n.1212T>C
XR_246242.1:n.1196T>C
NM_001319155.1:c.1212T>C	NP_001306084.1:p.Phe404=
NM_001363587.1:c.1014T>C	NP_001350516.1:p.Phe338=
NR_134988.1:n.1013T>C
NR_134989.1:n.1204T>C
NR_134990.1:n.1198T>C
NR_134991.1:n.1185T>C
NR_134992.1:n.814T>C
NR_134993.1:n.948T>C
NR_134994.1:n.1220T>C
XM_017000465.1:c.996T>C	XP_016855954.1:p.Phe332=
XR_001737005.1:n.1286T>C
NM_000778.4:c.1308T>C MANE Select	NP_000769.2:p.Phe436=
NM_001319155.2:c.1212T>C	NP_001306084.1:p.Phe404=
NM_001363587.2:c.1014T>C	NP_001350516.1:p.Phe338=
NR_134988.2:n.1005T>C
NR_134989.2:n.1196T>C
NR_134990.2:n.1190T>C
NR_134991.2:n.1177T>C
NR_134992.2:n.806T>C
NR_134993.2:n.940T>C
NR_134994.2:n.1212T>C