Canonical Allele Identifier: CA340223380

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1359071414
• gnomAD v4: 1-46933039-C-T
• COSMIC: COSM910367
• MyVariant Identifiers: chr1:g.47398711C>T (hg19) ; chr1:g.46933039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933039C>T , CM000663.2:g.46933039C>T	GRCh38
NC_000001.10:g.47398711C>T , CM000663.1:g.47398711C>T	GRCh37
NC_000001.9:g.47171298C>T	NCBI36
NG_007932.1:g.13446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1231G>A MANE Select	ENSP00000311095.4:p.Val411Ile
ENST00000310638.8:c.1231G>A	ENSP00000311095.4:p.Val411Ile
ENST00000371904.8:c.1234G>A	ENSP00000360971.4:p.Val412Ile
ENST00000371905.1:c.1231G>A	ENSP00000360972.1:p.Val411Ile
ENST00000462347.5:c.937G>A	ENSP00000477495.1:p.Val313Ile
ENST00000465874.5:c.*29G>A	ENSP00000476368.1:n.*29G>A
ENST00000468629.5:c.1127-202G>A	ENSP00000476619.1:n.1127-202G>A
ENST00000474458.5:c.743-202G>A	ENSP00000476988.1:n.743-202G>A
ENST00000475477.5:c.*82-202G>A	ENSP00000476854.1:n.*82-202G>A
NM_000778.3:c.1231G>A	NP_000769.2:p.Val411Ile
XM_005270539.1:c.937G>A	XP_005270596.1:p.Val313Ile
XM_011540826.1:c.1249G>A	XP_011539128.1:p.Val417Ile
XM_011540827.1:c.955G>A	XP_011539129.1:p.Val319Ile
XM_011540828.1:c.937G>A	XP_011539130.1:p.Val313Ile
XR_246241.1:n.1135G>A
XR_246242.1:n.1119G>A
NM_001319155.1:c.1135G>A	NP_001306084.1:p.Val379Ile
NM_001363587.1:c.937G>A	NP_001350516.1:p.Val313Ile
NR_134988.1:n.936G>A
NR_134989.1:n.1127G>A
NR_134990.1:n.1178-202G>A
NR_134991.1:n.1108G>A
NR_134992.1:n.794-202G>A
NR_134993.1:n.928-202G>A
NR_134994.1:n.1143G>A
XM_017000465.1:c.919G>A	XP_016855954.1:p.Val307Ile
XR_001737005.1:n.1266-202G>A
NM_000778.4:c.1231G>A MANE Select	NP_000769.2:p.Val411Ile
NM_001319155.2:c.1135G>A	NP_001306084.1:p.Val379Ile
NM_001363587.2:c.937G>A	NP_001350516.1:p.Val313Ile
NR_134988.2:n.928G>A
NR_134989.2:n.1119G>A
NR_134990.2:n.1170-202G>A
NR_134991.2:n.1100G>A
NR_134992.2:n.786-202G>A
NR_134993.2:n.920-202G>A
NR_134994.2:n.1135G>A