Canonical Allele Identifier: CA366409943

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024847-G-A
• MyVariant Identifiers: chr6:g.167438335G>A (hg19) ; chr6:g.167024847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024847G>A , CM000668.2:g.167024847G>A	GRCh38
NC_000006.11:g.167438335G>A , CM000668.1:g.167438335G>A	GRCh37
NC_000006.10:g.167358325G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.812G>A	ENSP00000230248.6:p.Ser271Asn
ENST00000488525.2:c.*4G>A	ENSP00000516042.1:n.*4G>A
ENST00000609590.2:n.1744G>A
ENST00000704900.1:c.449G>A	ENSP00000516059.1:p.Ser150Asn
ENST00000704901.1:c.*459G>A	ENSP00000516060.1:n.*459G>A
ENST00000704959.1:n.1137G>A
ENST00000704982.1:n.1582G>A
ENST00000704985.1:n.1978G>A
ENST00000704986.1:n.1978G>A
ENST00000705029.1:n.1703G>A
ENST00000705059.1:n.1527G>A
ENST00000705168.1:c.125G>A	ENSP00000516071.1:p.Ser42Asn
ENST00000705169.1:c.125G>A	ENSP00000516072.1:p.Ser42Asn
ENST00000705170.1:c.125G>A	ENSP00000516073.1:p.Ser42Asn
ENST00000705171.1:n.917G>A
ENST00000705173.1:c.*181G>A	ENSP00000516075.1:n.*181G>A
ENST00000705175.1:c.998G>A	ENSP00000516077.1:p.Ser333Asn
ENST00000705176.1:c.1058G>A	ENSP00000516078.1:p.Ser353Asn
ENST00000705177.1:c.*456G>A	ENSP00000516079.1:n.*456G>A
ENST00000705178.1:c.395G>A	ENSP00000516080.1:p.Ser132Asn
ENST00000705179.1:c.590G>A	ENSP00000516081.1:p.Ser197Asn
ENST00000705180.1:c.530G>A	ENSP00000516082.1:p.Ser177Asn
ENST00000705235.1:c.872G>A	ENSP00000516093.1:p.Ser291Asn
ENST00000705236.1:c.812G>A	ENSP00000516094.1:p.Ser271Asn
ENST00000705237.1:c.530G>A	ENSP00000516095.1:p.Ser177Asn
ENST00000705238.1:c.731G>A	ENSP00000516096.1:p.Ser244Asn
ENST00000705239.1:c.809G>A	ENSP00000516097.1:p.Ser270Asn
ENST00000705240.1:c.*481G>A	ENSP00000516098.1:n.*481G>A
ENST00000705241.1:c.*4G>A	ENSP00000516099.1:n.*4G>A
ENST00000705242.1:c.809G>A	ENSP00000516100.1:p.Ser270Asn
ENST00000705249.1:c.812G>A	ENSP00000516101.1:p.Ser271Asn
ENST00000705250.1:c.590G>A	ENSP00000516102.1:p.Ser197Asn
ENST00000705251.1:c.*459G>A	ENSP00000516103.1:n.*459G>A
ENST00000705252.1:c.*282G>A	ENSP00000516104.1:n.*282G>A
ENST00000705253.1:c.*282G>A	ENSP00000516105.1:n.*282G>A
ENST00000705254.1:c.419G>A	ENSP00000516106.1:p.Ser140Asn
ENST00000705255.1:n.1438G>A
ENST00000705256.1:c.869G>A	ENSP00000516107.1:p.Ser290Asn
ENST00000366847.9:c.872G>A MANE Select	ENSP00000355812.3:p.Ser291Asn
ENST00000349556.4:c.812G>A	ENSP00000230248.6:p.Ser271Asn
ENST00000366847.8:c.872G>A	ENSP00000355812.3:p.Ser291Asn
ENST00000488525.1:n.58G>A
ENST00000496181.1:n.276G>A
ENST00000622353.4:c.731G>A	ENSP00000479115.1:p.Ser244Asn
NM_001278690.1:c.731G>A	NP_001265619.1:p.Ser244Asn
NM_007045.3:c.872G>A	NP_008976.1:p.Ser291Asn
NM_194429.2:c.812G>A	NP_919410.1:p.Ser271Asn
NM_007045.4:c.872G>A MANE Select	NP_008976.1:p.Ser291Asn
NM_194429.3:c.812G>A	NP_919410.1:p.Ser271Asn
NM_001278690.2:c.731G>A	NP_001265619.1:p.Ser244Asn