Canonical Allele Identifier: CA366409981

Gene: CEP43

Linked Data

• dbSNP Id: rs142143894
• gnomAD v2: 6-167438353-C-A
• gnomAD v4: 6-167024865-C-A
• MyVariant Identifiers: chr6:g.167438353C>A (hg19) ; chr6:g.167024865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024865C>A , CM000668.2:g.167024865C>A	GRCh38
NC_000006.11:g.167438353C>A , CM000668.1:g.167438353C>A	GRCh37
NC_000006.10:g.167358343C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.830C>A	ENSP00000230248.6:p.Ala277Glu
ENST00000488525.2:c.*22C>A	ENSP00000516042.1:n.*22C>A
ENST00000609590.2:n.1762C>A
ENST00000704900.1:c.467C>A	ENSP00000516059.1:p.Ala156Glu
ENST00000704901.1:c.*477C>A	ENSP00000516060.1:n.*477C>A
ENST00000704959.1:n.1155C>A
ENST00000704982.1:n.1600C>A
ENST00000704985.1:n.1996C>A
ENST00000704986.1:n.1996C>A
ENST00000705029.1:n.1721C>A
ENST00000705059.1:n.1545C>A
ENST00000705168.1:c.143C>A	ENSP00000516071.1:p.Ala48Glu
ENST00000705169.1:c.143C>A	ENSP00000516072.1:p.Ala48Glu
ENST00000705170.1:c.143C>A	ENSP00000516073.1:p.Ala48Glu
ENST00000705171.1:n.935C>A
ENST00000705173.1:c.*199C>A	ENSP00000516075.1:n.*199C>A
ENST00000705175.1:c.1016C>A	ENSP00000516077.1:p.Ala339Glu
ENST00000705176.1:c.1076C>A	ENSP00000516078.1:p.Ala359Glu
ENST00000705177.1:c.*474C>A	ENSP00000516079.1:n.*474C>A
ENST00000705178.1:c.413C>A	ENSP00000516080.1:p.Ala138Glu
ENST00000705179.1:c.608C>A	ENSP00000516081.1:p.Ala203Glu
ENST00000705180.1:c.548C>A	ENSP00000516082.1:p.Ala183Glu
ENST00000705235.1:c.890C>A	ENSP00000516093.1:p.Ala297Glu
ENST00000705236.1:c.830C>A	ENSP00000516094.1:p.Ala277Glu
ENST00000705237.1:c.548C>A	ENSP00000516095.1:p.Ala183Glu
ENST00000705238.1:c.749C>A	ENSP00000516096.1:p.Ala250Glu
ENST00000705239.1:c.827C>A	ENSP00000516097.1:p.Ala276Glu
ENST00000705240.1:c.*499C>A	ENSP00000516098.1:n.*499C>A
ENST00000705241.1:c.*22C>A	ENSP00000516099.1:n.*22C>A
ENST00000705242.1:c.827C>A	ENSP00000516100.1:p.Ala276Glu
ENST00000705249.1:c.830C>A	ENSP00000516101.1:p.Ala277Glu
ENST00000705250.1:c.608C>A	ENSP00000516102.1:p.Ala203Glu
ENST00000705251.1:c.*477C>A	ENSP00000516103.1:n.*477C>A
ENST00000705252.1:c.*300C>A	ENSP00000516104.1:n.*300C>A
ENST00000705253.1:c.*300C>A	ENSP00000516105.1:n.*300C>A
ENST00000705254.1:c.437C>A	ENSP00000516106.1:p.Ala146Glu
ENST00000705255.1:n.1456C>A
ENST00000705256.1:c.887C>A	ENSP00000516107.1:p.Ala296Glu
ENST00000366847.9:c.890C>A MANE Select	ENSP00000355812.3:p.Ala297Glu
ENST00000349556.4:c.830C>A	ENSP00000230248.6:p.Ala277Glu
ENST00000366847.8:c.890C>A	ENSP00000355812.3:p.Ala297Glu
ENST00000488525.1:n.76C>A
ENST00000496181.1:n.294C>A
ENST00000622353.4:c.749C>A	ENSP00000479115.1:p.Ala250Glu
NM_001278690.1:c.749C>A	NP_001265619.1:p.Ala250Glu
NM_007045.3:c.890C>A	NP_008976.1:p.Ala297Glu
NM_194429.2:c.830C>A	NP_919410.1:p.Ala277Glu
NM_007045.4:c.890C>A MANE Select	NP_008976.1:p.Ala297Glu
NM_194429.3:c.830C>A	NP_919410.1:p.Ala277Glu
NM_001278690.2:c.749C>A	NP_001265619.1:p.Ala250Glu