Canonical Allele Identifier: CA522613369

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1368721846
• gnomAD v2: 1-47398666-GC-G
• gnomAD v3: 1-46932994-GC-G
• gnomAD v4: 1-46932994-GC-G
• MyVariant Identifiers: chr1:g.47398667del (hg19) ; chr1:g.46932995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932996del , CM000663.2:g.46932996del	GRCh38
NC_000001.10:g.47398668del , CM000663.1:g.47398668del	GRCh37
NC_000001.9:g.47171255del	NCBI36
NG_007932.1:g.13490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1275del MANE Select	ENSP00000311095.4:p.Trp425CysfsTer?
ENST00000310638.8:c.1275del	ENSP00000311095.4:p.Trp425CysfsTer?
ENST00000371904.8:c.1278del	ENSP00000360971.4:p.Trp426CysfsTer?
ENST00000371905.1:c.1275del	ENSP00000360972.1:p.Trp425CysfsTer?
ENST00000462347.5:c.981del	ENSP00000477495.1:p.Trp327CysfsTer?
ENST00000465874.5:c.*73del	ENSP00000476368.1:n.*73del
ENST00000468629.5:c.1127-158del	ENSP00000476619.1:n.1127-158del
ENST00000474458.5:c.743-158del	ENSP00000476988.1:n.743-158del
ENST00000475477.5:c.*82-158del	ENSP00000476854.1:n.*82-158del
NM_000778.3:c.1275del	NP_000769.2:p.Trp425CysfsTer?
XM_005270539.1:c.981del	XP_005270596.1:p.Trp327CysfsTer?
XM_011540826.1:c.1293del	XP_011539128.1:p.Trp431CysfsTer?
XM_011540827.1:c.999del	XP_011539129.1:p.Trp333CysfsTer?
XM_011540828.1:c.981del	XP_011539130.1:p.Trp327CysfsTer?
XR_246241.1:n.1179del
XR_246242.1:n.1163del
NM_001319155.1:c.1179del	NP_001306084.1:p.Trp393CysfsTer?
NM_001363587.1:c.981del	NP_001350516.1:p.Trp327CysfsTer?
NR_134988.1:n.980del
NR_134989.1:n.1171del
NR_134990.1:n.1178-158del
NR_134991.1:n.1152del
NR_134992.1:n.794-158del
NR_134993.1:n.928-158del
NR_134994.1:n.1187del
XM_017000465.1:c.963del	XP_016855954.1:p.Trp321CysfsTer?
XR_001737005.1:n.1266-158del
NM_000778.4:c.1275del MANE Select	NP_000769.2:p.Trp425CysfsTer?
NM_001319155.2:c.1179del	NP_001306084.1:p.Trp393CysfsTer?
NM_001363587.2:c.981del	NP_001350516.1:p.Trp327CysfsTer?
NR_134988.2:n.972del
NR_134989.2:n.1163del
NR_134990.2:n.1170-158del
NR_134991.2:n.1144del
NR_134992.2:n.786-158del
NR_134993.2:n.920-158del
NR_134994.2:n.1179del