Canonical Allele Identifier: CA366409112

Gene: CEP43

Linked Data

• ClinVar Variation Id: 3142945
• ClinVar RCV Id: RCV004436330
• gnomAD v4: 6-167022463-A-C
• MyVariant Identifiers: chr6:g.167435951A>C (hg19) ; chr6:g.167022463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167022463A>C , CM000668.2:g.167022463A>C	GRCh38
NC_000006.11:g.167435951A>C , CM000668.1:g.167435951A>C	GRCh37
NC_000006.10:g.167355941A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.574A>C	ENSP00000230248.6:p.Lys192Gln
ENST00000488525.2:c.634A>C	ENSP00000516042.1:p.Lys212Gln
ENST00000609590.2:n.1509A>C
ENST00000704900.1:c.211A>C	ENSP00000516059.1:p.Lys71Gln
ENST00000704901.1:c.*221A>C	ENSP00000516060.1:n.*221A>C
ENST00000704959.1:n.899A>C
ENST00000704982.1:n.1348A>C
ENST00000704985.1:n.1740A>C
ENST00000704986.1:n.1740A>C
ENST00000705059.1:n.1293A>C
ENST00000705168.1:c.-114A>C	ENSP00000516071.1:n.-114A>C
ENST00000705169.1:c.-114A>C	ENSP00000516072.1:n.-114A>C
ENST00000705170.1:c.-114A>C	ENSP00000516073.1:n.-114A>C
ENST00000705171.1:n.679A>C
ENST00000705173.1:c.687A>C	ENSP00000516075.1:p.Pro229=
ENST00000705175.1:c.760A>C	ENSP00000516077.1:p.Lys254Gln
ENST00000705176.1:c.820A>C	ENSP00000516078.1:p.Lys274Gln
ENST00000705177.1:c.*218A>C	ENSP00000516079.1:n.*218A>C
ENST00000705178.1:c.157A>C	ENSP00000516080.1:p.Lys53Gln
ENST00000705179.1:c.352A>C	ENSP00000516081.1:p.Lys118Gln
ENST00000705180.1:c.292A>C	ENSP00000516082.1:p.Lys98Gln
ENST00000705235.1:c.634A>C	ENSP00000516093.1:p.Lys212Gln
ENST00000705236.1:c.574A>C	ENSP00000516094.1:p.Lys192Gln
ENST00000705237.1:c.292A>C	ENSP00000516095.1:p.Lys98Gln
ENST00000705238.1:c.493A>C	ENSP00000516096.1:p.Lys165Gln
ENST00000705239.1:c.574A>C	ENSP00000516097.1:p.Lys192Gln
ENST00000705240.1:c.*243A>C	ENSP00000516098.1:n.*243A>C
ENST00000705241.1:c.574A>C	ENSP00000516099.1:p.Lys192Gln
ENST00000705242.1:c.571A>C	ENSP00000516100.1:p.Lys191Gln
ENST00000705249.1:c.574A>C	ENSP00000516101.1:p.Lys192Gln
ENST00000705250.1:c.352A>C	ENSP00000516102.1:p.Lys118Gln
ENST00000705251.1:c.*221A>C	ENSP00000516103.1:n.*221A>C
ENST00000705252.1:c.*44A>C	ENSP00000516104.1:n.*44A>C
ENST00000705253.1:c.*44A>C	ENSP00000516105.1:n.*44A>C
ENST00000705254.1:c.181A>C	ENSP00000516106.1:p.Lys61Gln
ENST00000705255.1:n.1200A>C
ENST00000705256.1:c.634A>C	ENSP00000516107.1:p.Lys212Gln
ENST00000366847.9:c.634A>C MANE Select	ENSP00000355812.3:p.Lys212Gln
ENST00000349556.4:c.574A>C	ENSP00000230248.6:p.Lys192Gln
ENST00000366847.8:c.634A>C	ENSP00000355812.3:p.Lys212Gln
ENST00000496181.1:n.38A>C
ENST00000622353.4:c.493A>C	ENSP00000479115.1:p.Lys165Gln
NM_001278690.1:c.493A>C	NP_001265619.1:p.Lys165Gln
NM_007045.3:c.634A>C	NP_008976.1:p.Lys212Gln
NM_194429.2:c.574A>C	NP_919410.1:p.Lys192Gln
NM_007045.4:c.634A>C MANE Select	NP_008976.1:p.Lys212Gln
NM_194429.3:c.574A>C	NP_919410.1:p.Lys192Gln
NM_001278690.2:c.493A>C	NP_001265619.1:p.Lys165Gln