Canonical Allele Identifier: CA340223251

Gene: CYP4A11

Linked Data

• MyVariant Identifiers: chr1:g.47398509C>G (hg19) ; chr1:g.46932837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932837C>G , CM000663.2:g.46932837C>G	GRCh38
NC_000001.10:g.47398509C>G , CM000663.1:g.47398509C>G	GRCh37
NC_000001.9:g.47171096C>G	NCBI36
NG_007932.1:g.13648G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1288G>C MANE Select	ENSP00000311095.4:p.Val430Leu
ENST00000310638.8:c.1288G>C	ENSP00000311095.4:p.Val430Leu
ENST00000371904.8:c.1291G>C	ENSP00000360971.4:p.Val431Leu
ENST00000371905.1:c.1288G>C	ENSP00000360972.1:p.Val430Leu
ENST00000462347.5:c.994G>C	ENSP00000477495.1:p.Val332Leu
ENST00000465874.5:c.*86G>C	ENSP00000476368.1:n.*86G>C
ENST00000468629.5:c.1127G>C	ENSP00000476619.1:p.Gly376Ala
ENST00000474458.5:c.743G>C	ENSP00000476988.1:p.Ser248Thr
ENST00000475477.5:c.*82G>C	ENSP00000476854.1:n.*82G>C
NM_000778.3:c.1288G>C	NP_000769.2:p.Val430Leu
XM_005270539.1:c.994G>C	XP_005270596.1:p.Val332Leu
XM_011540826.1:c.1306G>C	XP_011539128.1:p.Val436Leu
XM_011540827.1:c.1012G>C	XP_011539129.1:p.Val338Leu
XM_011540828.1:c.994G>C	XP_011539130.1:p.Val332Leu
XR_246241.1:n.1192G>C
XR_246242.1:n.1176G>C
NM_001319155.1:c.1192G>C	NP_001306084.1:p.Val398Leu
NM_001363587.1:c.994G>C	NP_001350516.1:p.Val332Leu
NR_134988.1:n.993G>C
NR_134989.1:n.1184G>C
NR_134990.1:n.1178G>C
NR_134991.1:n.1165G>C
NR_134992.1:n.794G>C
NR_134993.1:n.928G>C
NR_134994.1:n.1200G>C
XM_017000465.1:c.976G>C	XP_016855954.1:p.Val326Leu
XR_001737005.1:n.1266G>C
NM_000778.4:c.1288G>C MANE Select	NP_000769.2:p.Val430Leu
NM_001319155.2:c.1192G>C	NP_001306084.1:p.Val398Leu
NM_001363587.2:c.994G>C	NP_001350516.1:p.Val332Leu
NR_134988.2:n.985G>C
NR_134989.2:n.1176G>C
NR_134990.2:n.1170G>C
NR_134991.2:n.1157G>C
NR_134992.2:n.786G>C
NR_134993.2:n.920G>C
NR_134994.2:n.1192G>C