Canonical Allele Identifier: CA340223188

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398478G>A (hg19) ; chr1:g.46932806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932806G>A , CM000663.2:g.46932806G>A	GRCh38
NC_000001.10:g.47398478G>A , CM000663.1:g.47398478G>A	GRCh37
NC_000001.9:g.47171065G>A	NCBI36
NG_007932.1:g.13679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1319C>T MANE Select	ENSP00000311095.4:p.Ser440Phe
ENST00000310638.8:c.1319C>T	ENSP00000311095.4:p.Ser440Phe
ENST00000371904.8:c.1322C>T	ENSP00000360971.4:p.Ser441Phe
ENST00000371905.1:c.1319C>T	ENSP00000360972.1:p.Ser440Phe
ENST00000462347.5:c.1025C>T	ENSP00000477495.1:p.Ser342Phe
ENST00000465874.5:c.*117C>T	ENSP00000476368.1:n.*117C>T
ENST00000468629.5:c.*24C>T	ENSP00000476619.1:n.*24C>T
ENST00000474458.5:c.*24C>T	ENSP00000476988.1:n.*24C>T
ENST00000475477.5:c.*113C>T	ENSP00000476854.1:n.*113C>T
NM_000778.3:c.1319C>T	NP_000769.2:p.Ser440Phe
XM_005270539.1:c.1025C>T	XP_005270596.1:p.Ser342Phe
XM_011540826.1:c.1337C>T	XP_011539128.1:p.Ser446Phe
XM_011540827.1:c.1043C>T	XP_011539129.1:p.Ser348Phe
XM_011540828.1:c.1025C>T	XP_011539130.1:p.Ser342Phe
XR_246241.1:n.1223C>T
XR_246242.1:n.1207C>T
NM_001319155.1:c.1223C>T	NP_001306084.1:p.Ser408Phe
NM_001363587.1:c.1025C>T	NP_001350516.1:p.Ser342Phe
NR_134988.1:n.1024C>T
NR_134989.1:n.1215C>T
NR_134990.1:n.1209C>T
NR_134991.1:n.1196C>T
NR_134992.1:n.825C>T
NR_134993.1:n.959C>T
NR_134994.1:n.1231C>T
XM_017000465.1:c.1007C>T	XP_016855954.1:p.Ser336Phe
XR_001737005.1:n.1297C>T
NM_000778.4:c.1319C>T MANE Select	NP_000769.2:p.Ser440Phe
NM_001319155.2:c.1223C>T	NP_001306084.1:p.Ser408Phe
NM_001363587.2:c.1025C>T	NP_001350516.1:p.Ser342Phe
NR_134988.2:n.1016C>T
NR_134989.2:n.1207C>T
NR_134990.2:n.1201C>T
NR_134991.2:n.1188C>T
NR_134992.2:n.817C>T
NR_134993.2:n.951C>T
NR_134994.2:n.1223C>T