Canonical Allele Identifier: CA340223248

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1291945566
• gnomAD v2: 1-47398508-A-G
• gnomAD v4: 1-46932836-A-G
• MyVariant Identifiers: chr1:g.47398508A>G (hg19) ; chr1:g.46932836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932836A>G , CM000663.2:g.46932836A>G	GRCh38
NC_000001.10:g.47398508A>G , CM000663.1:g.47398508A>G	GRCh37
NC_000001.9:g.47171095A>G	NCBI36
NG_007932.1:g.13649T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1289T>C MANE Select	ENSP00000311095.4:p.Val430Ala
ENST00000310638.8:c.1289T>C	ENSP00000311095.4:p.Val430Ala
ENST00000371904.8:c.1292T>C	ENSP00000360971.4:p.Val431Ala
ENST00000371905.1:c.1289T>C	ENSP00000360972.1:p.Val430Ala
ENST00000462347.5:c.995T>C	ENSP00000477495.1:p.Val332Ala
ENST00000465874.5:c.*87T>C	ENSP00000476368.1:n.*87T>C
ENST00000468629.5:c.1128T>C	ENSP00000476619.1:p.Gly376=
ENST00000474458.5:c.744T>C	ENSP00000476988.1:p.Ser248=
ENST00000475477.5:c.*83T>C	ENSP00000476854.1:n.*83T>C
NM_000778.3:c.1289T>C	NP_000769.2:p.Val430Ala
XM_005270539.1:c.995T>C	XP_005270596.1:p.Val332Ala
XM_011540826.1:c.1307T>C	XP_011539128.1:p.Val436Ala
XM_011540827.1:c.1013T>C	XP_011539129.1:p.Val338Ala
XM_011540828.1:c.995T>C	XP_011539130.1:p.Val332Ala
XR_246241.1:n.1193T>C
XR_246242.1:n.1177T>C
NM_001319155.1:c.1193T>C	NP_001306084.1:p.Val398Ala
NM_001363587.1:c.995T>C	NP_001350516.1:p.Val332Ala
NR_134988.1:n.994T>C
NR_134989.1:n.1185T>C
NR_134990.1:n.1179T>C
NR_134991.1:n.1166T>C
NR_134992.1:n.795T>C
NR_134993.1:n.929T>C
NR_134994.1:n.1201T>C
XM_017000465.1:c.977T>C	XP_016855954.1:p.Val326Ala
XR_001737005.1:n.1267T>C
NM_000778.4:c.1289T>C MANE Select	NP_000769.2:p.Val430Ala
NM_001319155.2:c.1193T>C	NP_001306084.1:p.Val398Ala
NM_001363587.2:c.995T>C	NP_001350516.1:p.Val332Ala
NR_134988.2:n.986T>C
NR_134989.2:n.1177T>C
NR_134990.2:n.1171T>C
NR_134991.2:n.1158T>C
NR_134992.2:n.787T>C
NR_134993.2:n.921T>C
NR_134994.2:n.1193T>C