Canonical Allele Identifier: CA340223105

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1462435616
• gnomAD v2: 1-47398440-C-A
• MyVariant Identifiers: chr1:g.47398440C>A (hg19) ; chr1:g.46932768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932768C>A , CM000663.2:g.46932768C>A	GRCh38
NC_000001.10:g.47398440C>A , CM000663.1:g.47398440C>A	GRCh37
NC_000001.9:g.47171027C>A	NCBI36
NG_007932.1:g.13717G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1357G>T MANE Select	ENSP00000311095.4:p.Gly453Ter
ENST00000310638.8:c.1357G>T	ENSP00000311095.4:p.Gly453Ter
ENST00000371904.8:c.1360G>T	ENSP00000360971.4:p.Gly454Ter
ENST00000371905.1:c.1357G>T	ENSP00000360972.1:p.Gly453Ter
ENST00000462347.5:c.1063G>T	ENSP00000477495.1:p.Gly355Ter
ENST00000465874.5:c.*155G>T	ENSP00000476368.1:n.*155G>T
ENST00000468629.5:c.*62G>T	ENSP00000476619.1:n.*62G>T
ENST00000474458.5:c.*62G>T	ENSP00000476988.1:n.*62G>T
ENST00000475477.5:c.*151G>T	ENSP00000476854.1:n.*151G>T
NM_000778.3:c.1357G>T	NP_000769.2:p.Gly453Ter
XM_005270539.1:c.1063G>T	XP_005270596.1:p.Gly355Ter
XM_011540826.1:c.1375G>T	XP_011539128.1:p.Gly459Ter
XM_011540827.1:c.1081G>T	XP_011539129.1:p.Gly361Ter
XM_011540828.1:c.1063G>T	XP_011539130.1:p.Gly355Ter
XR_246241.1:n.1261G>T
XR_246242.1:n.1245G>T
NM_001319155.1:c.1261G>T	NP_001306084.1:p.Gly421Ter
NM_001363587.1:c.1063G>T	NP_001350516.1:p.Gly355Ter
NR_134988.1:n.1062G>T
NR_134989.1:n.1253G>T
NR_134990.1:n.1247G>T
NR_134991.1:n.1234G>T
NR_134992.1:n.863G>T
NR_134993.1:n.997G>T
NR_134994.1:n.1269G>T
XM_017000465.1:c.1045G>T	XP_016855954.1:p.Gly349Ter
XR_001737005.1:n.1335G>T
NM_000778.4:c.1357G>T MANE Select	NP_000769.2:p.Gly453Ter
NM_001319155.2:c.1261G>T	NP_001306084.1:p.Gly421Ter
NM_001363587.2:c.1063G>T	NP_001350516.1:p.Gly355Ter
NR_134988.2:n.1054G>T
NR_134989.2:n.1245G>T
NR_134990.2:n.1239G>T
NR_134991.2:n.1226G>T
NR_134992.2:n.855G>T
NR_134993.2:n.989G>T
NR_134994.2:n.1261G>T