Canonical Allele Identifier: CA571931145

Gene: CEP43

Linked Data

• dbSNP Id: rs1188331740
• gnomAD v2: 6-167438391-C-T
• gnomAD v4: 6-167024903-C-T
• MyVariant Identifiers: chr6:g.167438391C>T (hg19) ; chr6:g.167024903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024903C>T , CM000668.2:g.167024903C>T	GRCh38
NC_000006.11:g.167438391C>T , CM000668.1:g.167438391C>T	GRCh37
NC_000006.10:g.167358381C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+9C>T	ENSP00000230248.6:n.859+9C>T
ENST00000488525.2:c.*51+9C>T	ENSP00000516042.1:n.*51+9C>T
ENST00000609590.2:n.1791+9C>T
ENST00000704900.1:c.496+9C>T	ENSP00000516059.1:n.496+9C>T
ENST00000704901.1:c.*506+9C>T	ENSP00000516060.1:n.*506+9C>T
ENST00000704959.1:n.1184+9C>T
ENST00000704982.1:n.1629+9C>T
ENST00000704985.1:n.2025+9C>T
ENST00000704986.1:n.2025+9C>T
ENST00000705029.1:n.1750+9C>T
ENST00000705059.1:n.1574+9C>T
ENST00000705168.1:c.172+9C>T	ENSP00000516071.1:n.172+9C>T
ENST00000705169.1:c.172+9C>T	ENSP00000516072.1:n.172+9C>T
ENST00000705170.1:c.172+9C>T	ENSP00000516073.1:n.172+9C>T
ENST00000705171.1:n.964+9C>T
ENST00000705173.1:c.*228+9C>T	ENSP00000516075.1:n.*228+9C>T
ENST00000705175.1:c.1045+9C>T	ENSP00000516077.1:n.1045+9C>T
ENST00000705176.1:c.1105+9C>T	ENSP00000516078.1:n.1105+9C>T
ENST00000705177.1:c.*503+9C>T	ENSP00000516079.1:n.*503+9C>T
ENST00000705178.1:c.442+9C>T	ENSP00000516080.1:n.442+9C>T
ENST00000705179.1:c.637+9C>T	ENSP00000516081.1:n.637+9C>T
ENST00000705180.1:c.577+9C>T	ENSP00000516082.1:n.577+9C>T
ENST00000705235.1:c.919+9C>T	ENSP00000516093.1:n.919+9C>T
ENST00000705236.1:c.859+9C>T	ENSP00000516094.1:n.859+9C>T
ENST00000705237.1:c.577+9C>T	ENSP00000516095.1:n.577+9C>T
ENST00000705238.1:c.778+9C>T	ENSP00000516096.1:n.778+9C>T
ENST00000705239.1:c.856+9C>T	ENSP00000516097.1:n.856+9C>T
ENST00000705240.1:c.*528+9C>T	ENSP00000516098.1:n.*528+9C>T
ENST00000705241.1:c.*51+9C>T	ENSP00000516099.1:n.*51+9C>T
ENST00000705242.1:c.856+9C>T	ENSP00000516100.1:n.856+9C>T
ENST00000705249.1:c.859+9C>T	ENSP00000516101.1:n.859+9C>T
ENST00000705250.1:c.637+9C>T	ENSP00000516102.1:n.637+9C>T
ENST00000705251.1:c.*506+9C>T	ENSP00000516103.1:n.*506+9C>T
ENST00000705252.1:c.*329+9C>T	ENSP00000516104.1:n.*329+9C>T
ENST00000705253.1:c.*329+9C>T	ENSP00000516105.1:n.*329+9C>T
ENST00000705254.1:c.466+9C>T	ENSP00000516106.1:n.466+9C>T
ENST00000705255.1:n.1485+9C>T
ENST00000705256.1:c.916+9C>T	ENSP00000516107.1:n.916+9C>T
ENST00000366847.9:c.919+9C>T MANE Select	ENSP00000355812.3:n.919+9C>T
ENST00000349556.4:c.859+9C>T	ENSP00000230248.6:n.859+9C>T
ENST00000366847.8:c.919+9C>T	ENSP00000355812.3:n.919+9C>T
ENST00000488525.1:n.105+9C>T
ENST00000496181.1:n.332C>T
ENST00000622353.4:c.778+9C>T	ENSP00000479115.1:n.778+9C>T
NM_001278690.1:c.778+9C>T	NP_001265619.1:n.778+9C>T
NM_007045.3:c.919+9C>T	NP_008976.1:n.919+9C>T
NM_194429.2:c.859+9C>T	NP_919410.1:n.859+9C>T
NM_007045.4:c.919+9C>T MANE Select	NP_008976.1:n.919+9C>T
NM_194429.3:c.859+9C>T	NP_919410.1:n.859+9C>T
NM_001278690.2:c.778+9C>T	NP_001265619.1:n.778+9C>T