Canonical Allele Identifier: CA453081405

Gene: CEP43

Linked Data

• dbSNP Id: rs1780317282
• gnomAD v4: 6-167024797-G-A
• MyVariant Identifiers: chr6:g.167438285G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024797G>A , CM000668.2:g.167024797G>A	GRCh38
NC_000006.11:g.167438285G>A , CM000668.1:g.167438285G>A	GRCh37
NC_000006.10:g.167358275G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.762G>A	ENSP00000230248.6:p.Arg254=
ENST00000488525.2:c.818G>A	ENSP00000516042.1:p.Gly273Glu
ENST00000609590.2:n.1694G>A
ENST00000704900.1:c.399G>A	ENSP00000516059.1:p.Arg133=
ENST00000704901.1:c.*409G>A	ENSP00000516060.1:n.*409G>A
ENST00000704959.1:n.1087G>A
ENST00000704982.1:n.1532G>A
ENST00000704985.1:n.1928G>A
ENST00000704986.1:n.1928G>A
ENST00000705029.1:n.1653G>A
ENST00000705059.1:n.1477G>A
ENST00000705168.1:c.75G>A	ENSP00000516071.1:p.Arg25=
ENST00000705169.1:c.75G>A	ENSP00000516072.1:p.Arg25=
ENST00000705170.1:c.75G>A	ENSP00000516073.1:p.Arg25=
ENST00000705171.1:n.867G>A
ENST00000705173.1:c.*131G>A	ENSP00000516075.1:n.*131G>A
ENST00000705175.1:c.948G>A	ENSP00000516077.1:p.Arg316=
ENST00000705176.1:c.1008G>A	ENSP00000516078.1:p.Arg336=
ENST00000705177.1:c.*406G>A	ENSP00000516079.1:n.*406G>A
ENST00000705178.1:c.345G>A	ENSP00000516080.1:p.Arg115=
ENST00000705179.1:c.540G>A	ENSP00000516081.1:p.Arg180=
ENST00000705180.1:c.480G>A	ENSP00000516082.1:p.Arg160=
ENST00000705235.1:c.822G>A	ENSP00000516093.1:p.Arg274=
ENST00000705236.1:c.762G>A	ENSP00000516094.1:p.Arg254=
ENST00000705237.1:c.480G>A	ENSP00000516095.1:p.Arg160=
ENST00000705238.1:c.681G>A	ENSP00000516096.1:p.Arg227=
ENST00000705239.1:c.759G>A	ENSP00000516097.1:p.Arg253=
ENST00000705240.1:c.*431G>A	ENSP00000516098.1:n.*431G>A
ENST00000705241.1:c.758G>A	ENSP00000516099.1:p.Gly253Glu
ENST00000705242.1:c.759G>A	ENSP00000516100.1:p.Arg253=
ENST00000705249.1:c.762G>A	ENSP00000516101.1:p.Arg254=
ENST00000705250.1:c.540G>A	ENSP00000516102.1:p.Arg180=
ENST00000705251.1:c.*409G>A	ENSP00000516103.1:n.*409G>A
ENST00000705252.1:c.*232G>A	ENSP00000516104.1:n.*232G>A
ENST00000705253.1:c.*232G>A	ENSP00000516105.1:n.*232G>A
ENST00000705254.1:c.369G>A	ENSP00000516106.1:p.Arg123=
ENST00000705255.1:n.1388G>A
ENST00000705256.1:c.819G>A	ENSP00000516107.1:p.Arg273=
ENST00000366847.9:c.822G>A MANE Select	ENSP00000355812.3:p.Arg274=
ENST00000349556.4:c.762G>A	ENSP00000230248.6:p.Arg254=
ENST00000366847.8:c.822G>A	ENSP00000355812.3:p.Arg274=
ENST00000488525.1:n.8G>A
ENST00000496181.1:n.226G>A
ENST00000622353.4:c.681G>A	ENSP00000479115.1:p.Arg227=
NM_001278690.1:c.681G>A	NP_001265619.1:p.Arg227=
NM_007045.3:c.822G>A	NP_008976.1:p.Arg274=
NM_194429.2:c.762G>A	NP_919410.1:p.Arg254=
NM_007045.4:c.822G>A MANE Select	NP_008976.1:p.Arg274=
NM_194429.3:c.762G>A	NP_919410.1:p.Arg254=
NM_001278690.2:c.681G>A	NP_001265619.1:p.Arg227=