Canonical Allele Identifier: CA839289

Gene: CYP4A11

Linked Data

• dbSNP Id: rs138925154
• ExAC: 1:47398499 G / C
• gnomAD v2: 1-47398499-G-C
• gnomAD v3: 1-46932827-G-C
• gnomAD v4: 1-46932827-G-C
• MyVariant Identifiers: chr1:g.47398499G>C (hg19) ; chr1:g.46932827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932827G>C , CM000663.2:g.46932827G>C	GRCh38
NC_000001.10:g.47398499G>C , CM000663.1:g.47398499G>C	GRCh37
NC_000001.9:g.47171086G>C	NCBI36
NG_007932.1:g.13658C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1298C>G MANE Select	ENSP00000311095.4:p.Pro433Arg
ENST00000310638.8:c.1298C>G	ENSP00000311095.4:p.Pro433Arg
ENST00000371904.8:c.1301C>G	ENSP00000360971.4:p.Pro434Arg
ENST00000371905.1:c.1298C>G	ENSP00000360972.1:p.Pro433Arg
ENST00000462347.5:c.1004C>G	ENSP00000477495.1:p.Pro335Arg
ENST00000465874.5:c.*96C>G	ENSP00000476368.1:n.*96C>G
ENST00000468629.5:c.*3C>G	ENSP00000476619.1:n.*3C>G
ENST00000474458.5:c.*3C>G	ENSP00000476988.1:n.*3C>G
ENST00000475477.5:c.*92C>G	ENSP00000476854.1:n.*92C>G
NM_000778.3:c.1298C>G	NP_000769.2:p.Pro433Arg
XM_005270539.1:c.1004C>G	XP_005270596.1:p.Pro335Arg
XM_011540826.1:c.1316C>G	XP_011539128.1:p.Pro439Arg
XM_011540827.1:c.1022C>G	XP_011539129.1:p.Pro341Arg
XM_011540828.1:c.1004C>G	XP_011539130.1:p.Pro335Arg
XR_246241.1:n.1202C>G
XR_246242.1:n.1186C>G
NM_001319155.1:c.1202C>G	NP_001306084.1:p.Pro401Arg
NM_001363587.1:c.1004C>G	NP_001350516.1:p.Pro335Arg
NR_134988.1:n.1003C>G
NR_134989.1:n.1194C>G
NR_134990.1:n.1188C>G
NR_134991.1:n.1175C>G
NR_134992.1:n.804C>G
NR_134993.1:n.938C>G
NR_134994.1:n.1210C>G
XM_017000465.1:c.986C>G	XP_016855954.1:p.Pro329Arg
XR_001737005.1:n.1276C>G
NM_000778.4:c.1298C>G MANE Select	NP_000769.2:p.Pro433Arg
NM_001319155.2:c.1202C>G	NP_001306084.1:p.Pro401Arg
NM_001363587.2:c.1004C>G	NP_001350516.1:p.Pro335Arg
NR_134988.2:n.995C>G
NR_134989.2:n.1186C>G
NR_134990.2:n.1180C>G
NR_134991.2:n.1167C>G
NR_134992.2:n.796C>G
NR_134993.2:n.930C>G
NR_134994.2:n.1202C>G