Canonical Allele Identifier: CA340223307

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454144
• MyVariant Identifiers: chr1:g.47398677G>C (hg19) ; chr1:g.46933005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933005G>C , CM000663.2:g.46933005G>C	GRCh38
NC_000001.10:g.47398677G>C , CM000663.1:g.47398677G>C	GRCh37
NC_000001.9:g.47171264G>C	NCBI36
NG_007932.1:g.13480C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1265C>G MANE Select	ENSP00000311095.4:p.Pro422Arg
ENST00000310638.8:c.1265C>G	ENSP00000311095.4:p.Pro422Arg
ENST00000371904.8:c.1268C>G	ENSP00000360971.4:p.Pro423Arg
ENST00000371905.1:c.1265C>G	ENSP00000360972.1:p.Pro422Arg
ENST00000462347.5:c.971C>G	ENSP00000477495.1:p.Pro324Arg
ENST00000465874.5:c.*63C>G	ENSP00000476368.1:n.*63C>G
ENST00000468629.5:c.1127-168C>G	ENSP00000476619.1:n.1127-168C>G
ENST00000474458.5:c.743-168C>G	ENSP00000476988.1:n.743-168C>G
ENST00000475477.5:c.*82-168C>G	ENSP00000476854.1:n.*82-168C>G
NM_000778.3:c.1265C>G	NP_000769.2:p.Pro422Arg
XM_005270539.1:c.971C>G	XP_005270596.1:p.Pro324Arg
XM_011540826.1:c.1283C>G	XP_011539128.1:p.Pro428Arg
XM_011540827.1:c.989C>G	XP_011539129.1:p.Pro330Arg
XM_011540828.1:c.971C>G	XP_011539130.1:p.Pro324Arg
XR_246241.1:n.1169C>G
XR_246242.1:n.1153C>G
NM_001319155.1:c.1169C>G	NP_001306084.1:p.Pro390Arg
NM_001363587.1:c.971C>G	NP_001350516.1:p.Pro324Arg
NR_134988.1:n.970C>G
NR_134989.1:n.1161C>G
NR_134990.1:n.1178-168C>G
NR_134991.1:n.1142C>G
NR_134992.1:n.794-168C>G
NR_134993.1:n.928-168C>G
NR_134994.1:n.1177C>G
XM_017000465.1:c.953C>G	XP_016855954.1:p.Pro318Arg
XR_001737005.1:n.1266-168C>G
NM_000778.4:c.1265C>G MANE Select	NP_000769.2:p.Pro422Arg
NM_001319155.2:c.1169C>G	NP_001306084.1:p.Pro390Arg
NM_001363587.2:c.971C>G	NP_001350516.1:p.Pro324Arg
NR_134988.2:n.962C>G
NR_134989.2:n.1153C>G
NR_134990.2:n.1170-168C>G
NR_134991.2:n.1134C>G
NR_134992.2:n.786-168C>G
NR_134993.2:n.920-168C>G
NR_134994.2:n.1169C>G