Canonical Allele Identifier: CA340223138

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1399721304
• gnomAD v2: 1-47398456-G-C
• gnomAD v4: 1-46932784-G-C
• MyVariant Identifiers: chr1:g.47398456G>C (hg19) ; chr1:g.46932784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932784G>C , CM000663.2:g.46932784G>C	GRCh38
NC_000001.10:g.47398456G>C , CM000663.1:g.47398456G>C	GRCh37
NC_000001.9:g.47171043G>C	NCBI36
NG_007932.1:g.13701C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1341C>G MANE Select	ENSP00000311095.4:p.Phe447Leu
ENST00000310638.8:c.1341C>G	ENSP00000311095.4:p.Phe447Leu
ENST00000371904.8:c.1344C>G	ENSP00000360971.4:p.Phe448Leu
ENST00000371905.1:c.1341C>G	ENSP00000360972.1:p.Phe447Leu
ENST00000462347.5:c.1047C>G	ENSP00000477495.1:p.Phe349Leu
ENST00000465874.5:c.*139C>G	ENSP00000476368.1:n.*139C>G
ENST00000468629.5:c.*46C>G	ENSP00000476619.1:n.*46C>G
ENST00000474458.5:c.*46C>G	ENSP00000476988.1:n.*46C>G
ENST00000475477.5:c.*135C>G	ENSP00000476854.1:n.*135C>G
NM_000778.3:c.1341C>G	NP_000769.2:p.Phe447Leu
XM_005270539.1:c.1047C>G	XP_005270596.1:p.Phe349Leu
XM_011540826.1:c.1359C>G	XP_011539128.1:p.Phe453Leu
XM_011540827.1:c.1065C>G	XP_011539129.1:p.Phe355Leu
XM_011540828.1:c.1047C>G	XP_011539130.1:p.Phe349Leu
XR_246241.1:n.1245C>G
XR_246242.1:n.1229C>G
NM_001319155.1:c.1245C>G	NP_001306084.1:p.Phe415Leu
NM_001363587.1:c.1047C>G	NP_001350516.1:p.Phe349Leu
NR_134988.1:n.1046C>G
NR_134989.1:n.1237C>G
NR_134990.1:n.1231C>G
NR_134991.1:n.1218C>G
NR_134992.1:n.847C>G
NR_134993.1:n.981C>G
NR_134994.1:n.1253C>G
XM_017000465.1:c.1029C>G	XP_016855954.1:p.Phe343Leu
XR_001737005.1:n.1319C>G
NM_000778.4:c.1341C>G MANE Select	NP_000769.2:p.Phe447Leu
NM_001319155.2:c.1245C>G	NP_001306084.1:p.Phe415Leu
NM_001363587.2:c.1047C>G	NP_001350516.1:p.Phe349Leu
NR_134988.2:n.1038C>G
NR_134989.2:n.1229C>G
NR_134990.2:n.1223C>G
NR_134991.2:n.1210C>G
NR_134992.2:n.839C>G
NR_134993.2:n.973C>G
NR_134994.2:n.1245C>G