Canonical Allele Identifier: CA4095563

Gene: CEP43

Linked Data

• dbSNP Id: rs746247439
• ExAC: 6:167438370 A / G
• gnomAD v2: 6-167438370-A-G
• gnomAD v4: 6-167024882-A-G
• MyVariant Identifiers: chr6:g.167438370A>G (hg19) ; chr6:g.167024882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024882A>G , CM000668.2:g.167024882A>G	GRCh38
NC_000006.11:g.167438370A>G , CM000668.1:g.167438370A>G	GRCh37
NC_000006.10:g.167358360A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.847A>G	ENSP00000230248.6:p.Lys283Glu
ENST00000488525.2:c.*39A>G	ENSP00000516042.1:n.*39A>G
ENST00000609590.2:n.1779A>G
ENST00000704900.1:c.484A>G	ENSP00000516059.1:p.Lys162Glu
ENST00000704901.1:c.*494A>G	ENSP00000516060.1:n.*494A>G
ENST00000704959.1:n.1172A>G
ENST00000704982.1:n.1617A>G
ENST00000704985.1:n.2013A>G
ENST00000704986.1:n.2013A>G
ENST00000705029.1:n.1738A>G
ENST00000705059.1:n.1562A>G
ENST00000705168.1:c.160A>G	ENSP00000516071.1:p.Lys54Glu
ENST00000705169.1:c.160A>G	ENSP00000516072.1:p.Lys54Glu
ENST00000705170.1:c.160A>G	ENSP00000516073.1:p.Lys54Glu
ENST00000705171.1:n.952A>G
ENST00000705173.1:c.*216A>G	ENSP00000516075.1:n.*216A>G
ENST00000705175.1:c.1033A>G	ENSP00000516077.1:p.Lys345Glu
ENST00000705176.1:c.1093A>G	ENSP00000516078.1:p.Lys365Glu
ENST00000705177.1:c.*491A>G	ENSP00000516079.1:n.*491A>G
ENST00000705178.1:c.430A>G	ENSP00000516080.1:p.Lys144Glu
ENST00000705179.1:c.625A>G	ENSP00000516081.1:p.Lys209Glu
ENST00000705180.1:c.565A>G	ENSP00000516082.1:p.Lys189Glu
ENST00000705235.1:c.907A>G	ENSP00000516093.1:p.Lys303Glu
ENST00000705236.1:c.847A>G	ENSP00000516094.1:p.Lys283Glu
ENST00000705237.1:c.565A>G	ENSP00000516095.1:p.Lys189Glu
ENST00000705238.1:c.766A>G	ENSP00000516096.1:p.Lys256Glu
ENST00000705239.1:c.844A>G	ENSP00000516097.1:p.Lys282Glu
ENST00000705240.1:c.*516A>G	ENSP00000516098.1:n.*516A>G
ENST00000705241.1:c.*39A>G	ENSP00000516099.1:n.*39A>G
ENST00000705242.1:c.844A>G	ENSP00000516100.1:p.Lys282Glu
ENST00000705249.1:c.847A>G	ENSP00000516101.1:p.Lys283Glu
ENST00000705250.1:c.625A>G	ENSP00000516102.1:p.Lys209Glu
ENST00000705251.1:c.*494A>G	ENSP00000516103.1:n.*494A>G
ENST00000705252.1:c.*317A>G	ENSP00000516104.1:n.*317A>G
ENST00000705253.1:c.*317A>G	ENSP00000516105.1:n.*317A>G
ENST00000705254.1:c.454A>G	ENSP00000516106.1:p.Lys152Glu
ENST00000705255.1:n.1473A>G
ENST00000705256.1:c.904A>G	ENSP00000516107.1:p.Lys302Glu
ENST00000366847.9:c.907A>G MANE Select	ENSP00000355812.3:p.Lys303Glu
ENST00000349556.4:c.847A>G	ENSP00000230248.6:p.Lys283Glu
ENST00000366847.8:c.907A>G	ENSP00000355812.3:p.Lys303Glu
ENST00000488525.1:n.93A>G
ENST00000496181.1:n.311A>G
ENST00000622353.4:c.766A>G	ENSP00000479115.1:p.Lys256Glu
NM_001278690.1:c.766A>G	NP_001265619.1:p.Lys256Glu
NM_007045.3:c.907A>G	NP_008976.1:p.Lys303Glu
NM_194429.2:c.847A>G	NP_919410.1:p.Lys283Glu
NM_007045.4:c.907A>G MANE Select	NP_008976.1:p.Lys303Glu
NM_194429.3:c.847A>G	NP_919410.1:p.Lys283Glu
NM_001278690.2:c.766A>G	NP_001265619.1:p.Lys256Glu