Canonical Allele Identifier: CA366410023

Gene: CEP43

Linked Data

• dbSNP Id: rs1780320223
• gnomAD v3: 6-167024886-A-T
• gnomAD v4: 6-167024886-A-T
• MyVariant Identifiers: chr6:g.167438374A>T (hg19) ; chr6:g.167024886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024886A>T , CM000668.2:g.167024886A>T	GRCh38
NC_000006.11:g.167438374A>T , CM000668.1:g.167438374A>T	GRCh37
NC_000006.10:g.167358364A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.851A>T	ENSP00000230248.6:p.Asp284Val
ENST00000488525.2:c.*43A>T	ENSP00000516042.1:n.*43A>T
ENST00000609590.2:n.1783A>T
ENST00000704900.1:c.488A>T	ENSP00000516059.1:p.Asp163Val
ENST00000704901.1:c.*498A>T	ENSP00000516060.1:n.*498A>T
ENST00000704959.1:n.1176A>T
ENST00000704982.1:n.1621A>T
ENST00000704985.1:n.2017A>T
ENST00000704986.1:n.2017A>T
ENST00000705029.1:n.1742A>T
ENST00000705059.1:n.1566A>T
ENST00000705168.1:c.164A>T	ENSP00000516071.1:p.Asp55Val
ENST00000705169.1:c.164A>T	ENSP00000516072.1:p.Asp55Val
ENST00000705170.1:c.164A>T	ENSP00000516073.1:p.Asp55Val
ENST00000705171.1:n.956A>T
ENST00000705173.1:c.*220A>T	ENSP00000516075.1:n.*220A>T
ENST00000705175.1:c.1037A>T	ENSP00000516077.1:p.Asp346Val
ENST00000705176.1:c.1097A>T	ENSP00000516078.1:p.Asp366Val
ENST00000705177.1:c.*495A>T	ENSP00000516079.1:n.*495A>T
ENST00000705178.1:c.434A>T	ENSP00000516080.1:p.Asp145Val
ENST00000705179.1:c.629A>T	ENSP00000516081.1:p.Asp210Val
ENST00000705180.1:c.569A>T	ENSP00000516082.1:p.Asp190Val
ENST00000705235.1:c.911A>T	ENSP00000516093.1:p.Asp304Val
ENST00000705236.1:c.851A>T	ENSP00000516094.1:p.Asp284Val
ENST00000705237.1:c.569A>T	ENSP00000516095.1:p.Asp190Val
ENST00000705238.1:c.770A>T	ENSP00000516096.1:p.Asp257Val
ENST00000705239.1:c.848A>T	ENSP00000516097.1:p.Asp283Val
ENST00000705240.1:c.*520A>T	ENSP00000516098.1:n.*520A>T
ENST00000705241.1:c.*43A>T	ENSP00000516099.1:n.*43A>T
ENST00000705242.1:c.848A>T	ENSP00000516100.1:p.Asp283Val
ENST00000705249.1:c.851A>T	ENSP00000516101.1:p.Asp284Val
ENST00000705250.1:c.629A>T	ENSP00000516102.1:p.Asp210Val
ENST00000705251.1:c.*498A>T	ENSP00000516103.1:n.*498A>T
ENST00000705252.1:c.*321A>T	ENSP00000516104.1:n.*321A>T
ENST00000705253.1:c.*321A>T	ENSP00000516105.1:n.*321A>T
ENST00000705254.1:c.458A>T	ENSP00000516106.1:p.Asp153Val
ENST00000705255.1:n.1477A>T
ENST00000705256.1:c.908A>T	ENSP00000516107.1:p.Asp303Val
ENST00000366847.9:c.911A>T MANE Select	ENSP00000355812.3:p.Asp304Val
ENST00000349556.4:c.851A>T	ENSP00000230248.6:p.Asp284Val
ENST00000366847.8:c.911A>T	ENSP00000355812.3:p.Asp304Val
ENST00000488525.1:n.97A>T
ENST00000496181.1:n.315A>T
ENST00000622353.4:c.770A>T	ENSP00000479115.1:p.Asp257Val
NM_001278690.1:c.770A>T	NP_001265619.1:p.Asp257Val
NM_007045.3:c.911A>T	NP_008976.1:p.Asp304Val
NM_194429.2:c.851A>T	NP_919410.1:p.Asp284Val
NM_007045.4:c.911A>T MANE Select	NP_008976.1:p.Asp304Val
NM_194429.3:c.851A>T	NP_919410.1:p.Asp284Val
NM_001278690.2:c.770A>T	NP_001265619.1:p.Asp257Val