Canonical Allele Identifier: CA839274

Gene: CYP4A11

Linked Data

• dbSNP Id: rs556756716
• ExAC: 1:47398461 C / T
• gnomAD v2: 1-47398461-C-T
• gnomAD v3: 1-46932789-C-T
• gnomAD v4: 1-46932789-C-T
• COSMIC: COSM6063776
• MyVariant Identifiers: chr1:g.47398461C>T (hg19) ; chr1:g.46932789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932789C>T , CM000663.2:g.46932789C>T	GRCh38
NC_000001.10:g.47398461C>T , CM000663.1:g.47398461C>T	GRCh37
NC_000001.9:g.47171048C>T	NCBI36
NG_007932.1:g.13696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1336G>A MANE Select	ENSP00000311095.4:p.Ala446Thr
ENST00000310638.8:c.1336G>A	ENSP00000311095.4:p.Ala446Thr
ENST00000371904.8:c.1339G>A	ENSP00000360971.4:p.Ala447Thr
ENST00000371905.1:c.1336G>A	ENSP00000360972.1:p.Ala446Thr
ENST00000462347.5:c.1042G>A	ENSP00000477495.1:p.Ala348Thr
ENST00000465874.5:c.*134G>A	ENSP00000476368.1:n.*134G>A
ENST00000468629.5:c.*41G>A	ENSP00000476619.1:n.*41G>A
ENST00000474458.5:c.*41G>A	ENSP00000476988.1:n.*41G>A
ENST00000475477.5:c.*130G>A	ENSP00000476854.1:n.*130G>A
NM_000778.3:c.1336G>A	NP_000769.2:p.Ala446Thr
XM_005270539.1:c.1042G>A	XP_005270596.1:p.Ala348Thr
XM_011540826.1:c.1354G>A	XP_011539128.1:p.Ala452Thr
XM_011540827.1:c.1060G>A	XP_011539129.1:p.Ala354Thr
XM_011540828.1:c.1042G>A	XP_011539130.1:p.Ala348Thr
XR_246241.1:n.1240G>A
XR_246242.1:n.1224G>A
NM_001319155.1:c.1240G>A	NP_001306084.1:p.Ala414Thr
NM_001363587.1:c.1042G>A	NP_001350516.1:p.Ala348Thr
NR_134988.1:n.1041G>A
NR_134989.1:n.1232G>A
NR_134990.1:n.1226G>A
NR_134991.1:n.1213G>A
NR_134992.1:n.842G>A
NR_134993.1:n.976G>A
NR_134994.1:n.1248G>A
XM_017000465.1:c.1024G>A	XP_016855954.1:p.Ala342Thr
XR_001737005.1:n.1314G>A
NM_000778.4:c.1336G>A MANE Select	NP_000769.2:p.Ala446Thr
NM_001319155.2:c.1240G>A	NP_001306084.1:p.Ala414Thr
NM_001363587.2:c.1042G>A	NP_001350516.1:p.Ala348Thr
NR_134988.2:n.1033G>A
NR_134989.2:n.1224G>A
NR_134990.2:n.1218G>A
NR_134991.2:n.1205G>A
NR_134992.2:n.834G>A
NR_134993.2:n.968G>A
NR_134994.2:n.1240G>A