Canonical Allele Identifier: CA417755918

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398507C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932835C>A , CM000663.2:g.46932835C>A	GRCh38
NC_000001.10:g.47398507C>A , CM000663.1:g.47398507C>A	GRCh37
NC_000001.9:g.47171094C>A	NCBI36
NG_007932.1:g.13650G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1290G>T MANE Select	ENSP00000311095.4:p.Val430=
ENST00000310638.8:c.1290G>T	ENSP00000311095.4:p.Val430=
ENST00000371904.8:c.1293G>T	ENSP00000360971.4:p.Val431=
ENST00000371905.1:c.1290G>T	ENSP00000360972.1:p.Val430=
ENST00000462347.5:c.996G>T	ENSP00000477495.1:p.Val332=
ENST00000465874.5:c.*88G>T	ENSP00000476368.1:n.*88G>T
ENST00000468629.5:c.1129G>T	ENSP00000476619.1:p.Val377Phe
ENST00000474458.5:c.745G>T	ENSP00000476988.1:p.Val249Phe
ENST00000475477.5:c.*84G>T	ENSP00000476854.1:n.*84G>T
NM_000778.3:c.1290G>T	NP_000769.2:p.Val430=
XM_005270539.1:c.996G>T	XP_005270596.1:p.Val332=
XM_011540826.1:c.1308G>T	XP_011539128.1:p.Val436=
XM_011540827.1:c.1014G>T	XP_011539129.1:p.Val338=
XM_011540828.1:c.996G>T	XP_011539130.1:p.Val332=
XR_246241.1:n.1194G>T
XR_246242.1:n.1178G>T
NM_001319155.1:c.1194G>T	NP_001306084.1:p.Val398=
NM_001363587.1:c.996G>T	NP_001350516.1:p.Val332=
NR_134988.1:n.995G>T
NR_134989.1:n.1186G>T
NR_134990.1:n.1180G>T
NR_134991.1:n.1167G>T
NR_134992.1:n.796G>T
NR_134993.1:n.930G>T
NR_134994.1:n.1202G>T
XM_017000465.1:c.978G>T	XP_016855954.1:p.Val326=
XR_001737005.1:n.1268G>T
NM_000778.4:c.1290G>T MANE Select	NP_000769.2:p.Val430=
NM_001319155.2:c.1194G>T	NP_001306084.1:p.Val398=
NM_001363587.2:c.996G>T	NP_001350516.1:p.Val332=
NR_134988.2:n.987G>T
NR_134989.2:n.1178G>T
NR_134990.2:n.1172G>T
NR_134991.2:n.1159G>T
NR_134992.2:n.788G>T
NR_134993.2:n.922G>T
NR_134994.2:n.1194G>T