Canonical Allele Identifier: CA839281

Gene: CYP4A11

Linked Data

• dbSNP Id: rs9333059
• ExAC: 1:47398483 C / T
• gnomAD v2: 1-47398483-C-T
• gnomAD v3: 1-46932811-C-T
• gnomAD v4: 1-46932811-C-T
• MyVariant Identifiers: chr1:g.47398483C>T (hg19) ; chr1:g.46932811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932811C>T , CM000663.2:g.46932811C>T	GRCh38
NC_000001.10:g.47398483C>T , CM000663.1:g.47398483C>T	GRCh37
NC_000001.9:g.47171070C>T	NCBI36
NG_007932.1:g.13674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1314G>A MANE Select	ENSP00000311095.4:p.Pro438=
ENST00000310638.8:c.1314G>A	ENSP00000311095.4:p.Pro438=
ENST00000371904.8:c.1317G>A	ENSP00000360971.4:p.Pro439=
ENST00000371905.1:c.1314G>A	ENSP00000360972.1:p.Pro438=
ENST00000462347.5:c.1020G>A	ENSP00000477495.1:p.Pro340=
ENST00000465874.5:c.*112G>A	ENSP00000476368.1:n.*112G>A
ENST00000468629.5:c.*19G>A	ENSP00000476619.1:n.*19G>A
ENST00000474458.5:c.*19G>A	ENSP00000476988.1:n.*19G>A
ENST00000475477.5:c.*108G>A	ENSP00000476854.1:n.*108G>A
NM_000778.3:c.1314G>A	NP_000769.2:p.Pro438=
XM_005270539.1:c.1020G>A	XP_005270596.1:p.Pro340=
XM_011540826.1:c.1332G>A	XP_011539128.1:p.Pro444=
XM_011540827.1:c.1038G>A	XP_011539129.1:p.Pro346=
XM_011540828.1:c.1020G>A	XP_011539130.1:p.Pro340=
XR_246241.1:n.1218G>A
XR_246242.1:n.1202G>A
NM_001319155.1:c.1218G>A	NP_001306084.1:p.Pro406=
NM_001363587.1:c.1020G>A	NP_001350516.1:p.Pro340=
NR_134988.1:n.1019G>A
NR_134989.1:n.1210G>A
NR_134990.1:n.1204G>A
NR_134991.1:n.1191G>A
NR_134992.1:n.820G>A
NR_134993.1:n.954G>A
NR_134994.1:n.1226G>A
XM_017000465.1:c.1002G>A	XP_016855954.1:p.Pro334=
XR_001737005.1:n.1292G>A
NM_000778.4:c.1314G>A MANE Select	NP_000769.2:p.Pro438=
NM_001319155.2:c.1218G>A	NP_001306084.1:p.Pro406=
NM_001363587.2:c.1020G>A	NP_001350516.1:p.Pro340=
NR_134988.2:n.1011G>A
NR_134989.2:n.1202G>A
NR_134990.2:n.1196G>A
NR_134991.2:n.1183G>A
NR_134992.2:n.812G>A
NR_134993.2:n.946G>A
NR_134994.2:n.1218G>A