Canonical Allele Identifier: CA340223121

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1327283629
• gnomAD v3: 1-46932775-G-C
• gnomAD v4: 1-46932775-G-C
• MyVariant Identifiers: chr1:g.47398447G>C (hg19) ; chr1:g.46932775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932775G>C , CM000663.2:g.46932775G>C	GRCh38
NC_000001.10:g.47398447G>C , CM000663.1:g.47398447G>C	GRCh37
NC_000001.9:g.47171034G>C	NCBI36
NG_007932.1:g.13710C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1350C>G MANE Select	ENSP00000311095.4:p.Phe450Leu
ENST00000310638.8:c.1350C>G	ENSP00000311095.4:p.Phe450Leu
ENST00000371904.8:c.1353C>G	ENSP00000360971.4:p.Phe451Leu
ENST00000371905.1:c.1350C>G	ENSP00000360972.1:p.Phe450Leu
ENST00000462347.5:c.1056C>G	ENSP00000477495.1:p.Phe352Leu
ENST00000465874.5:c.*148C>G	ENSP00000476368.1:n.*148C>G
ENST00000468629.5:c.*55C>G	ENSP00000476619.1:n.*55C>G
ENST00000474458.5:c.*55C>G	ENSP00000476988.1:n.*55C>G
ENST00000475477.5:c.*144C>G	ENSP00000476854.1:n.*144C>G
NM_000778.3:c.1350C>G	NP_000769.2:p.Phe450Leu
XM_005270539.1:c.1056C>G	XP_005270596.1:p.Phe352Leu
XM_011540826.1:c.1368C>G	XP_011539128.1:p.Phe456Leu
XM_011540827.1:c.1074C>G	XP_011539129.1:p.Phe358Leu
XM_011540828.1:c.1056C>G	XP_011539130.1:p.Phe352Leu
XR_246241.1:n.1254C>G
XR_246242.1:n.1238C>G
NM_001319155.1:c.1254C>G	NP_001306084.1:p.Phe418Leu
NM_001363587.1:c.1056C>G	NP_001350516.1:p.Phe352Leu
NR_134988.1:n.1055C>G
NR_134989.1:n.1246C>G
NR_134990.1:n.1240C>G
NR_134991.1:n.1227C>G
NR_134992.1:n.856C>G
NR_134993.1:n.990C>G
NR_134994.1:n.1262C>G
XM_017000465.1:c.1038C>G	XP_016855954.1:p.Phe346Leu
XR_001737005.1:n.1328C>G
NM_000778.4:c.1350C>G MANE Select	NP_000769.2:p.Phe450Leu
NM_001319155.2:c.1254C>G	NP_001306084.1:p.Phe418Leu
NM_001363587.2:c.1056C>G	NP_001350516.1:p.Phe352Leu
NR_134988.2:n.1047C>G
NR_134989.2:n.1238C>G
NR_134990.2:n.1232C>G
NR_134991.2:n.1219C>G
NR_134992.2:n.848C>G
NR_134993.2:n.982C>G
NR_134994.2:n.1254C>G