Canonical Allele Identifier: CA366409850

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024801-C-G
• MyVariant Identifiers: chr6:g.167438289C>G (hg19) ; chr6:g.167024801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024801C>G , CM000668.2:g.167024801C>G	GRCh38
NC_000006.11:g.167438289C>G , CM000668.1:g.167438289C>G	GRCh37
NC_000006.10:g.167358279C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.766C>G	ENSP00000230248.6:p.Gln256Glu
ENST00000488525.2:c.822C>G	ENSP00000516042.1:p.Ser274Arg
ENST00000609590.2:n.1698C>G
ENST00000704900.1:c.403C>G	ENSP00000516059.1:p.Gln135Glu
ENST00000704901.1:c.*413C>G	ENSP00000516060.1:n.*413C>G
ENST00000704959.1:n.1091C>G
ENST00000704982.1:n.1536C>G
ENST00000704985.1:n.1932C>G
ENST00000704986.1:n.1932C>G
ENST00000705029.1:n.1657C>G
ENST00000705059.1:n.1481C>G
ENST00000705168.1:c.79C>G	ENSP00000516071.1:p.Gln27Glu
ENST00000705169.1:c.79C>G	ENSP00000516072.1:p.Gln27Glu
ENST00000705170.1:c.79C>G	ENSP00000516073.1:p.Gln27Glu
ENST00000705171.1:n.871C>G
ENST00000705173.1:c.*135C>G	ENSP00000516075.1:n.*135C>G
ENST00000705175.1:c.952C>G	ENSP00000516077.1:p.Gln318Glu
ENST00000705176.1:c.1012C>G	ENSP00000516078.1:p.Gln338Glu
ENST00000705177.1:c.*410C>G	ENSP00000516079.1:n.*410C>G
ENST00000705178.1:c.349C>G	ENSP00000516080.1:p.Gln117Glu
ENST00000705179.1:c.544C>G	ENSP00000516081.1:p.Gln182Glu
ENST00000705180.1:c.484C>G	ENSP00000516082.1:p.Gln162Glu
ENST00000705235.1:c.826C>G	ENSP00000516093.1:p.Gln276Glu
ENST00000705236.1:c.766C>G	ENSP00000516094.1:p.Gln256Glu
ENST00000705237.1:c.484C>G	ENSP00000516095.1:p.Gln162Glu
ENST00000705238.1:c.685C>G	ENSP00000516096.1:p.Gln229Glu
ENST00000705239.1:c.763C>G	ENSP00000516097.1:p.Gln255Glu
ENST00000705240.1:c.*435C>G	ENSP00000516098.1:n.*435C>G
ENST00000705241.1:c.762C>G	ENSP00000516099.1:p.Ser254Arg
ENST00000705242.1:c.763C>G	ENSP00000516100.1:p.Gln255Glu
ENST00000705249.1:c.766C>G	ENSP00000516101.1:p.Gln256Glu
ENST00000705250.1:c.544C>G	ENSP00000516102.1:p.Gln182Glu
ENST00000705251.1:c.*413C>G	ENSP00000516103.1:n.*413C>G
ENST00000705252.1:c.*236C>G	ENSP00000516104.1:n.*236C>G
ENST00000705253.1:c.*236C>G	ENSP00000516105.1:n.*236C>G
ENST00000705254.1:c.373C>G	ENSP00000516106.1:p.Gln125Glu
ENST00000705255.1:n.1392C>G
ENST00000705256.1:c.823C>G	ENSP00000516107.1:p.Gln275Glu
ENST00000366847.9:c.826C>G MANE Select	ENSP00000355812.3:p.Gln276Glu
ENST00000349556.4:c.766C>G	ENSP00000230248.6:p.Gln256Glu
ENST00000366847.8:c.826C>G	ENSP00000355812.3:p.Gln276Glu
ENST00000488525.1:n.12C>G
ENST00000496181.1:n.230C>G
ENST00000622353.4:c.685C>G	ENSP00000479115.1:p.Gln229Glu
NM_001278690.1:c.685C>G	NP_001265619.1:p.Gln229Glu
NM_007045.3:c.826C>G	NP_008976.1:p.Gln276Glu
NM_194429.2:c.766C>G	NP_919410.1:p.Gln256Glu
NM_007045.4:c.826C>G MANE Select	NP_008976.1:p.Gln276Glu
NM_194429.3:c.766C>G	NP_919410.1:p.Gln256Glu
NM_001278690.2:c.685C>G	NP_001265619.1:p.Gln229Glu