Canonical Allele Identifier: CA340223194

Gene: CYP4A11

Linked Data

• dbSNP Id: rs764571042
• gnomAD v3: 1-46932809-C-T
• gnomAD v4: 1-46932809-C-T
• COSMIC: COSM1687628
• MyVariant Identifiers: chr1:g.47398481C>T (hg19) ; chr1:g.46932809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932809C>T , CM000663.2:g.46932809C>T	GRCh38
NC_000001.10:g.47398481C>T , CM000663.1:g.47398481C>T	GRCh37
NC_000001.9:g.47171068C>T	NCBI36
NG_007932.1:g.13676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1316G>A MANE Select	ENSP00000311095.4:p.Gly439Asp
ENST00000310638.8:c.1316G>A	ENSP00000311095.4:p.Gly439Asp
ENST00000371904.8:c.1319G>A	ENSP00000360971.4:p.Gly440Asp
ENST00000371905.1:c.1316G>A	ENSP00000360972.1:p.Gly439Asp
ENST00000462347.5:c.1022G>A	ENSP00000477495.1:p.Gly341Asp
ENST00000465874.5:c.*114G>A	ENSP00000476368.1:n.*114G>A
ENST00000468629.5:c.*21G>A	ENSP00000476619.1:n.*21G>A
ENST00000474458.5:c.*21G>A	ENSP00000476988.1:n.*21G>A
ENST00000475477.5:c.*110G>A	ENSP00000476854.1:n.*110G>A
NM_000778.3:c.1316G>A	NP_000769.2:p.Gly439Asp
XM_005270539.1:c.1022G>A	XP_005270596.1:p.Gly341Asp
XM_011540826.1:c.1334G>A	XP_011539128.1:p.Gly445Asp
XM_011540827.1:c.1040G>A	XP_011539129.1:p.Gly347Asp
XM_011540828.1:c.1022G>A	XP_011539130.1:p.Gly341Asp
XR_246241.1:n.1220G>A
XR_246242.1:n.1204G>A
NM_001319155.1:c.1220G>A	NP_001306084.1:p.Gly407Asp
NM_001363587.1:c.1022G>A	NP_001350516.1:p.Gly341Asp
NR_134988.1:n.1021G>A
NR_134989.1:n.1212G>A
NR_134990.1:n.1206G>A
NR_134991.1:n.1193G>A
NR_134992.1:n.822G>A
NR_134993.1:n.956G>A
NR_134994.1:n.1228G>A
XM_017000465.1:c.1004G>A	XP_016855954.1:p.Gly335Asp
XR_001737005.1:n.1294G>A
NM_000778.4:c.1316G>A MANE Select	NP_000769.2:p.Gly439Asp
NM_001319155.2:c.1220G>A	NP_001306084.1:p.Gly407Asp
NM_001363587.2:c.1022G>A	NP_001350516.1:p.Gly341Asp
NR_134988.2:n.1013G>A
NR_134989.2:n.1204G>A
NR_134990.2:n.1198G>A
NR_134991.2:n.1185G>A
NR_134992.2:n.814G>A
NR_134993.2:n.948G>A
NR_134994.2:n.1220G>A