Canonical Allele Identifier: CA340223238

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398503C>A (hg19) ; chr1:g.46932831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932831C>A , CM000663.2:g.46932831C>A	GRCh38
NC_000001.10:g.47398503C>A , CM000663.1:g.47398503C>A	GRCh37
NC_000001.9:g.47171090C>A	NCBI36
NG_007932.1:g.13654G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1294G>T MANE Select	ENSP00000311095.4:p.Asp432Tyr
ENST00000310638.8:c.1294G>T	ENSP00000311095.4:p.Asp432Tyr
ENST00000371904.8:c.1297G>T	ENSP00000360971.4:p.Asp433Tyr
ENST00000371905.1:c.1294G>T	ENSP00000360972.1:p.Asp432Tyr
ENST00000462347.5:c.1000G>T	ENSP00000477495.1:p.Asp334Tyr
ENST00000465874.5:c.*92G>T	ENSP00000476368.1:n.*92G>T
ENST00000468629.5:c.1133G>T	ENSP00000476619.1:p.Ter378Leu
ENST00000474458.5:c.749G>T	ENSP00000476988.1:p.Ter250Leu
ENST00000475477.5:c.*88G>T	ENSP00000476854.1:n.*88G>T
NM_000778.3:c.1294G>T	NP_000769.2:p.Asp432Tyr
XM_005270539.1:c.1000G>T	XP_005270596.1:p.Asp334Tyr
XM_011540826.1:c.1312G>T	XP_011539128.1:p.Asp438Tyr
XM_011540827.1:c.1018G>T	XP_011539129.1:p.Asp340Tyr
XM_011540828.1:c.1000G>T	XP_011539130.1:p.Asp334Tyr
XR_246241.1:n.1198G>T
XR_246242.1:n.1182G>T
NM_001319155.1:c.1198G>T	NP_001306084.1:p.Asp400Tyr
NM_001363587.1:c.1000G>T	NP_001350516.1:p.Asp334Tyr
NR_134988.1:n.999G>T
NR_134989.1:n.1190G>T
NR_134990.1:n.1184G>T
NR_134991.1:n.1171G>T
NR_134992.1:n.800G>T
NR_134993.1:n.934G>T
NR_134994.1:n.1206G>T
XM_017000465.1:c.982G>T	XP_016855954.1:p.Asp328Tyr
XR_001737005.1:n.1272G>T
NM_000778.4:c.1294G>T MANE Select	NP_000769.2:p.Asp432Tyr
NM_001319155.2:c.1198G>T	NP_001306084.1:p.Asp400Tyr
NM_001363587.2:c.1000G>T	NP_001350516.1:p.Asp334Tyr
NR_134988.2:n.991G>T
NR_134989.2:n.1182G>T
NR_134990.2:n.1176G>T
NR_134991.2:n.1163G>T
NR_134992.2:n.792G>T
NR_134993.2:n.926G>T
NR_134994.2:n.1198G>T