Canonical Allele Identifier: CA839286

Gene: CYP4A11

Linked Data

• dbSNP Id: rs142881303
• ExAC: 1:47398494 G / T
• gnomAD v2: 1-47398494-G-T
• gnomAD v4: 1-46932822-G-T
• MyVariant Identifiers: chr1:g.47398494G>T (hg19) ; chr1:g.46932822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932822G>T , CM000663.2:g.46932822G>T	GRCh38
NC_000001.10:g.47398494G>T , CM000663.1:g.47398494G>T	GRCh37
NC_000001.9:g.47171081G>T	NCBI36
NG_007932.1:g.13663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1303C>A MANE Select	ENSP00000311095.4:p.Arg435Ser
ENST00000310638.8:c.1303C>A	ENSP00000311095.4:p.Arg435Ser
ENST00000371904.8:c.1306C>A	ENSP00000360971.4:p.Arg436Ser
ENST00000371905.1:c.1303C>A	ENSP00000360972.1:p.Arg435Ser
ENST00000462347.5:c.1009C>A	ENSP00000477495.1:p.Arg337Ser
ENST00000465874.5:c.*101C>A	ENSP00000476368.1:n.*101C>A
ENST00000468629.5:c.*8C>A	ENSP00000476619.1:n.*8C>A
ENST00000474458.5:c.*8C>A	ENSP00000476988.1:n.*8C>A
ENST00000475477.5:c.*97C>A	ENSP00000476854.1:n.*97C>A
NM_000778.3:c.1303C>A	NP_000769.2:p.Arg435Ser
XM_005270539.1:c.1009C>A	XP_005270596.1:p.Arg337Ser
XM_011540826.1:c.1321C>A	XP_011539128.1:p.Arg441Ser
XM_011540827.1:c.1027C>A	XP_011539129.1:p.Arg343Ser
XM_011540828.1:c.1009C>A	XP_011539130.1:p.Arg337Ser
XR_246241.1:n.1207C>A
XR_246242.1:n.1191C>A
NM_001319155.1:c.1207C>A	NP_001306084.1:p.Arg403Ser
NM_001363587.1:c.1009C>A	NP_001350516.1:p.Arg337Ser
NR_134988.1:n.1008C>A
NR_134989.1:n.1199C>A
NR_134990.1:n.1193C>A
NR_134991.1:n.1180C>A
NR_134992.1:n.809C>A
NR_134993.1:n.943C>A
NR_134994.1:n.1215C>A
XM_017000465.1:c.991C>A	XP_016855954.1:p.Arg331Ser
XR_001737005.1:n.1281C>A
NM_000778.4:c.1303C>A MANE Select	NP_000769.2:p.Arg435Ser
NM_001319155.2:c.1207C>A	NP_001306084.1:p.Arg403Ser
NM_001363587.2:c.1009C>A	NP_001350516.1:p.Arg337Ser
NR_134988.2:n.1000C>A
NR_134989.2:n.1191C>A
NR_134990.2:n.1185C>A
NR_134991.2:n.1172C>A
NR_134992.2:n.801C>A
NR_134993.2:n.935C>A
NR_134994.2:n.1207C>A