Canonical Allele Identifier: CA839271

Gene: CYP4A11

Linked Data

• dbSNP Id: rs771932669
• ExAC: 1:47398439 C / T
• gnomAD v2: 1-47398439-C-T
• gnomAD v3: 1-46932767-C-T
• gnomAD v4: 1-46932767-C-T
• MyVariant Identifiers: chr1:g.47398439C>T (hg19) ; chr1:g.46932767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932767C>T , CM000663.2:g.46932767C>T	GRCh38
NC_000001.10:g.47398439C>T , CM000663.1:g.47398439C>T	GRCh37
NC_000001.9:g.47171026C>T	NCBI36
NG_007932.1:g.13718G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1358G>A MANE Select	ENSP00000311095.4:p.Gly453Glu
ENST00000310638.8:c.1358G>A	ENSP00000311095.4:p.Gly453Glu
ENST00000371904.8:c.1361G>A	ENSP00000360971.4:p.Gly454Glu
ENST00000371905.1:c.1358G>A	ENSP00000360972.1:p.Gly453Glu
ENST00000462347.5:c.1064G>A	ENSP00000477495.1:p.Gly355Glu
ENST00000465874.5:c.*156G>A	ENSP00000476368.1:n.*156G>A
ENST00000468629.5:c.*63G>A	ENSP00000476619.1:n.*63G>A
ENST00000474458.5:c.*63G>A	ENSP00000476988.1:n.*63G>A
ENST00000475477.5:c.*152G>A	ENSP00000476854.1:n.*152G>A
NM_000778.3:c.1358G>A	NP_000769.2:p.Gly453Glu
XM_005270539.1:c.1064G>A	XP_005270596.1:p.Gly355Glu
XM_011540826.1:c.1376G>A	XP_011539128.1:p.Gly459Glu
XM_011540827.1:c.1082G>A	XP_011539129.1:p.Gly361Glu
XM_011540828.1:c.1064G>A	XP_011539130.1:p.Gly355Glu
XR_246241.1:n.1262G>A
XR_246242.1:n.1246G>A
NM_001319155.1:c.1262G>A	NP_001306084.1:p.Gly421Glu
NM_001363587.1:c.1064G>A	NP_001350516.1:p.Gly355Glu
NR_134988.1:n.1063G>A
NR_134989.1:n.1254G>A
NR_134990.1:n.1248G>A
NR_134991.1:n.1235G>A
NR_134992.1:n.864G>A
NR_134993.1:n.998G>A
NR_134994.1:n.1270G>A
XM_017000465.1:c.1046G>A	XP_016855954.1:p.Gly349Glu
XR_001737005.1:n.1336G>A
NM_000778.4:c.1358G>A MANE Select	NP_000769.2:p.Gly453Glu
NM_001319155.2:c.1262G>A	NP_001306084.1:p.Gly421Glu
NM_001363587.2:c.1064G>A	NP_001350516.1:p.Gly355Glu
NR_134988.2:n.1055G>A
NR_134989.2:n.1246G>A
NR_134990.2:n.1240G>A
NR_134991.2:n.1227G>A
NR_134992.2:n.856G>A
NR_134993.2:n.990G>A
NR_134994.2:n.1262G>A