Canonical Allele Identifier: CA417755930

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1330329192
• gnomAD v3: 1-46932983-C-T
• gnomAD v4: 1-46932983-C-T
• MyVariant Identifiers: chr1:g.47398655C>T (hg19) ; chr1:g.46932983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932983C>T , CM000663.2:g.46932983C>T	GRCh38
NC_000001.10:g.47398655C>T , CM000663.1:g.47398655C>T	GRCh37
NC_000001.9:g.47171242C>T	NCBI36
NG_007932.1:g.13502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1287G>A MANE Select	ENSP00000311095.4:p.Glu429=
ENST00000310638.8:c.1287G>A	ENSP00000311095.4:p.Glu429=
ENST00000371904.8:c.1290G>A	ENSP00000360971.4:p.Glu430=
ENST00000371905.1:c.1287G>A	ENSP00000360972.1:p.Glu429=
ENST00000462347.5:c.993G>A	ENSP00000477495.1:p.Glu331=
ENST00000465874.5:c.*85G>A	ENSP00000476368.1:n.*85G>A
ENST00000468629.5:c.1127-146G>A	ENSP00000476619.1:n.1127-146G>A
ENST00000474458.5:c.743-146G>A	ENSP00000476988.1:n.743-146G>A
ENST00000475477.5:c.*82-146G>A	ENSP00000476854.1:n.*82-146G>A
NM_000778.3:c.1287G>A	NP_000769.2:p.Glu429=
XM_005270539.1:c.993G>A	XP_005270596.1:p.Glu331=
XM_011540826.1:c.1305G>A	XP_011539128.1:p.Glu435=
XM_011540827.1:c.1011G>A	XP_011539129.1:p.Glu337=
XM_011540828.1:c.993G>A	XP_011539130.1:p.Glu331=
XR_246241.1:n.1191G>A
XR_246242.1:n.1175G>A
NM_001319155.1:c.1191G>A	NP_001306084.1:p.Glu397=
NM_001363587.1:c.993G>A	NP_001350516.1:p.Glu331=
NR_134988.1:n.992G>A
NR_134989.1:n.1183G>A
NR_134990.1:n.1178-146G>A
NR_134991.1:n.1164G>A
NR_134992.1:n.794-146G>A
NR_134993.1:n.928-146G>A
NR_134994.1:n.1199G>A
XM_017000465.1:c.975G>A	XP_016855954.1:p.Glu325=
XR_001737005.1:n.1266-146G>A
NM_000778.4:c.1287G>A MANE Select	NP_000769.2:p.Glu429=
NM_001319155.2:c.1191G>A	NP_001306084.1:p.Glu397=
NM_001363587.2:c.993G>A	NP_001350516.1:p.Glu331=
NR_134988.2:n.984G>A
NR_134989.2:n.1175G>A
NR_134990.2:n.1170-146G>A
NR_134991.2:n.1156G>A
NR_134992.2:n.786-146G>A
NR_134993.2:n.920-146G>A
NR_134994.2:n.1191G>A