Canonical Allele Identifier: CA571931149

Gene: CEP43

Linked Data

• dbSNP Id: rs1163967850
• gnomAD v2: 6-167438409-A-G
• gnomAD v3: 6-167024921-A-G
• gnomAD v4: 6-167024921-A-G
• MyVariant Identifiers: chr6:g.167438409A>G (hg19) ; chr6:g.167024921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024921A>G , CM000668.2:g.167024921A>G	GRCh38
NC_000006.11:g.167438409A>G , CM000668.1:g.167438409A>G	GRCh37
NC_000006.10:g.167358399A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+27A>G	ENSP00000230248.6:n.859+27A>G
ENST00000488525.2:c.*51+27A>G	ENSP00000516042.1:n.*51+27A>G
ENST00000609590.2:n.1791+27A>G
ENST00000704900.1:c.496+27A>G	ENSP00000516059.1:n.496+27A>G
ENST00000704901.1:c.*506+27A>G	ENSP00000516060.1:n.*506+27A>G
ENST00000704959.1:n.1184+27A>G
ENST00000704982.1:n.1629+27A>G
ENST00000704985.1:n.2025+27A>G
ENST00000704986.1:n.2025+27A>G
ENST00000705029.1:n.1750+27A>G
ENST00000705059.1:n.1574+27A>G
ENST00000705168.1:c.172+27A>G	ENSP00000516071.1:n.172+27A>G
ENST00000705169.1:c.172+27A>G	ENSP00000516072.1:n.172+27A>G
ENST00000705170.1:c.172+27A>G	ENSP00000516073.1:n.172+27A>G
ENST00000705171.1:n.964+27A>G
ENST00000705173.1:c.*228+27A>G	ENSP00000516075.1:n.*228+27A>G
ENST00000705175.1:c.1045+27A>G	ENSP00000516077.1:n.1045+27A>G
ENST00000705176.1:c.1105+27A>G	ENSP00000516078.1:n.1105+27A>G
ENST00000705177.1:c.*503+27A>G	ENSP00000516079.1:n.*503+27A>G
ENST00000705178.1:c.442+27A>G	ENSP00000516080.1:n.442+27A>G
ENST00000705179.1:c.637+27A>G	ENSP00000516081.1:n.637+27A>G
ENST00000705180.1:c.577+27A>G	ENSP00000516082.1:n.577+27A>G
ENST00000705235.1:c.919+27A>G	ENSP00000516093.1:n.919+27A>G
ENST00000705236.1:c.859+27A>G	ENSP00000516094.1:n.859+27A>G
ENST00000705237.1:c.577+27A>G	ENSP00000516095.1:n.577+27A>G
ENST00000705238.1:c.778+27A>G	ENSP00000516096.1:n.778+27A>G
ENST00000705239.1:c.856+27A>G	ENSP00000516097.1:n.856+27A>G
ENST00000705240.1:c.*528+27A>G	ENSP00000516098.1:n.*528+27A>G
ENST00000705241.1:c.*51+27A>G	ENSP00000516099.1:n.*51+27A>G
ENST00000705242.1:c.856+27A>G	ENSP00000516100.1:n.856+27A>G
ENST00000705249.1:c.859+27A>G	ENSP00000516101.1:n.859+27A>G
ENST00000705250.1:c.637+27A>G	ENSP00000516102.1:n.637+27A>G
ENST00000705251.1:c.*506+27A>G	ENSP00000516103.1:n.*506+27A>G
ENST00000705252.1:c.*329+27A>G	ENSP00000516104.1:n.*329+27A>G
ENST00000705253.1:c.*329+27A>G	ENSP00000516105.1:n.*329+27A>G
ENST00000705254.1:c.466+27A>G	ENSP00000516106.1:n.466+27A>G
ENST00000705255.1:n.1485+27A>G
ENST00000705256.1:c.916+27A>G	ENSP00000516107.1:n.916+27A>G
ENST00000366847.9:c.919+27A>G MANE Select	ENSP00000355812.3:n.919+27A>G
ENST00000349556.4:c.859+27A>G	ENSP00000230248.6:n.859+27A>G
ENST00000366847.8:c.919+27A>G	ENSP00000355812.3:n.919+27A>G
ENST00000488525.1:n.105+27A>G
ENST00000496181.1:n.350A>G
ENST00000622353.4:c.778+27A>G	ENSP00000479115.1:n.778+27A>G
NM_001278690.1:c.778+27A>G	NP_001265619.1:n.778+27A>G
NM_007045.3:c.919+27A>G	NP_008976.1:n.919+27A>G
NM_194429.2:c.859+27A>G	NP_919410.1:n.859+27A>G
NM_007045.4:c.919+27A>G MANE Select	NP_008976.1:n.919+27A>G
NM_194429.3:c.859+27A>G	NP_919410.1:n.859+27A>G
NM_001278690.2:c.778+27A>G	NP_001265619.1:n.778+27A>G