Canonical Allele Identifier: CA2681188514

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024960-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024960T>C , CM000668.2:g.167024960T>C	GRCh38
NC_000006.11:g.167438448T>C , CM000668.1:g.167438448T>C	GRCh37
NC_000006.10:g.167358438T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+66T>C	ENSP00000230248.6:n.859+66T>C
ENST00000488525.2:c.*51+66T>C	ENSP00000516042.1:n.*51+66T>C
ENST00000609590.2:n.1791+66T>C
ENST00000704900.1:c.496+66T>C	ENSP00000516059.1:n.496+66T>C
ENST00000704901.1:c.*506+66T>C	ENSP00000516060.1:n.*506+66T>C
ENST00000704959.1:n.1184+66T>C
ENST00000704982.1:n.1629+66T>C
ENST00000704985.1:n.2025+66T>C
ENST00000704986.1:n.2025+66T>C
ENST00000705029.1:n.1750+66T>C
ENST00000705059.1:n.1574+66T>C
ENST00000705168.1:c.172+66T>C	ENSP00000516071.1:n.172+66T>C
ENST00000705169.1:c.172+66T>C	ENSP00000516072.1:n.172+66T>C
ENST00000705170.1:c.172+66T>C	ENSP00000516073.1:n.172+66T>C
ENST00000705171.1:n.964+66T>C
ENST00000705173.1:c.*228+66T>C	ENSP00000516075.1:n.*228+66T>C
ENST00000705175.1:c.1045+66T>C	ENSP00000516077.1:n.1045+66T>C
ENST00000705176.1:c.1105+66T>C	ENSP00000516078.1:n.1105+66T>C
ENST00000705177.1:c.*503+66T>C	ENSP00000516079.1:n.*503+66T>C
ENST00000705178.1:c.442+66T>C	ENSP00000516080.1:n.442+66T>C
ENST00000705179.1:c.637+66T>C	ENSP00000516081.1:n.637+66T>C
ENST00000705180.1:c.577+66T>C	ENSP00000516082.1:n.577+66T>C
ENST00000705235.1:c.919+66T>C	ENSP00000516093.1:n.919+66T>C
ENST00000705236.1:c.859+66T>C	ENSP00000516094.1:n.859+66T>C
ENST00000705237.1:c.577+66T>C	ENSP00000516095.1:n.577+66T>C
ENST00000705238.1:c.778+66T>C	ENSP00000516096.1:n.778+66T>C
ENST00000705239.1:c.856+66T>C	ENSP00000516097.1:n.856+66T>C
ENST00000705240.1:c.*528+66T>C	ENSP00000516098.1:n.*528+66T>C
ENST00000705241.1:c.*51+66T>C	ENSP00000516099.1:n.*51+66T>C
ENST00000705242.1:c.856+66T>C	ENSP00000516100.1:n.856+66T>C
ENST00000705249.1:c.859+66T>C	ENSP00000516101.1:n.859+66T>C
ENST00000705250.1:c.637+66T>C	ENSP00000516102.1:n.637+66T>C
ENST00000705251.1:c.*506+66T>C	ENSP00000516103.1:n.*506+66T>C
ENST00000705252.1:c.*329+66T>C	ENSP00000516104.1:n.*329+66T>C
ENST00000705253.1:c.*329+66T>C	ENSP00000516105.1:n.*329+66T>C
ENST00000705254.1:c.466+66T>C	ENSP00000516106.1:n.466+66T>C
ENST00000705255.1:n.1485+66T>C
ENST00000705256.1:c.916+66T>C	ENSP00000516107.1:n.916+66T>C
ENST00000366847.9:c.919+66T>C MANE Select	ENSP00000355812.3:n.919+66T>C
ENST00000349556.4:c.859+66T>C	ENSP00000230248.6:n.859+66T>C
ENST00000366847.8:c.919+66T>C	ENSP00000355812.3:n.919+66T>C
ENST00000488525.1:n.105+66T>C
ENST00000496181.1:n.389T>C
ENST00000622353.4:c.778+66T>C	ENSP00000479115.1:n.778+66T>C
NM_001278690.1:c.778+66T>C	NP_001265619.1:n.778+66T>C
NM_007045.3:c.919+66T>C	NP_008976.1:n.919+66T>C
NM_194429.2:c.859+66T>C	NP_919410.1:n.859+66T>C
NM_007045.4:c.919+66T>C MANE Select	NP_008976.1:n.919+66T>C
NM_194429.3:c.859+66T>C	NP_919410.1:n.859+66T>C
NM_001278690.2:c.778+66T>C	NP_001265619.1:n.778+66T>C