Canonical Allele Identifier: CA1097048265

Gene: CEP43

Linked Data

• dbSNP Id: rs1780311376
• gnomAD v3: 6-167024552-A-G
• gnomAD v4: 6-167024552-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024552A>G , CM000668.2:g.167024552A>G	GRCh38
NC_000006.11:g.167438040A>G , CM000668.1:g.167438040A>G	GRCh37
NC_000006.10:g.167358030A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000349556.5:c.747-230A>G	ENSP00000230248.6:n.747-230A>G
ENST00000488525.2:c.803-230A>G	ENSP00000516042.1:n.803-230A>G
ENST00000609590.2:n.1682-233A>G
ENST00000704900.1:c.384-230A>G	ENSP00000516059.1:n.384-230A>G
ENST00000704901.1:c.*394-230A>G	ENSP00000516060.1:n.*394-230A>G
ENST00000704959.1:n.1072-230A>G
ENST00000704982.1:n.1517-230A>G
ENST00000704985.1:n.1913-230A>G
ENST00000704986.1:n.1913-230A>G
ENST00000705029.1:n.1408A>G
ENST00000705059.1:n.1462-230A>G
ENST00000705168.1:c.60-230A>G	ENSP00000516071.1:n.60-230A>G
ENST00000705169.1:c.60-230A>G	ENSP00000516072.1:n.60-230A>G
ENST00000705170.1:c.60-230A>G	ENSP00000516073.1:n.60-230A>G
ENST00000705171.1:n.852-230A>G
ENST00000705173.1:c.*116-230A>G	ENSP00000516075.1:n.*116-230A>G
ENST00000705175.1:c.933-230A>G	ENSP00000516077.1:n.933-230A>G
ENST00000705176.1:c.993-230A>G	ENSP00000516078.1:n.993-230A>G
ENST00000705177.1:c.*391-230A>G	ENSP00000516079.1:n.*391-230A>G
ENST00000705178.1:c.330-230A>G	ENSP00000516080.1:n.330-230A>G
ENST00000705179.1:c.525-230A>G	ENSP00000516081.1:n.525-230A>G
ENST00000705180.1:c.465-230A>G	ENSP00000516082.1:n.465-230A>G
ENST00000705235.1:c.807-230A>G	ENSP00000516093.1:n.807-230A>G
ENST00000705236.1:c.747-230A>G	ENSP00000516094.1:n.747-230A>G
ENST00000705237.1:c.465-230A>G	ENSP00000516095.1:n.465-230A>G
ENST00000705238.1:c.666-230A>G	ENSP00000516096.1:n.666-230A>G
ENST00000705239.1:c.747-233A>G	ENSP00000516097.1:n.747-233A>G
ENST00000705240.1:c.*416-230A>G	ENSP00000516098.1:n.*416-230A>G
ENST00000705241.1:c.743-230A>G	ENSP00000516099.1:n.743-230A>G
ENST00000705242.1:c.744-230A>G	ENSP00000516100.1:n.744-230A>G
ENST00000705249.1:c.747-230A>G	ENSP00000516101.1:n.747-230A>G
ENST00000705250.1:c.525-230A>G	ENSP00000516102.1:n.525-230A>G
ENST00000705251.1:c.*394-230A>G	ENSP00000516103.1:n.*394-230A>G
ENST00000705252.1:c.*217-230A>G	ENSP00000516104.1:n.*217-230A>G
ENST00000705253.1:c.*217-230A>G	ENSP00000516105.1:n.*217-230A>G
ENST00000705254.1:c.354-230A>G	ENSP00000516106.1:n.354-230A>G
ENST00000705255.1:n.1373-230A>G
ENST00000705256.1:c.807-233A>G	ENSP00000516107.1:n.807-233A>G
ENST00000366847.9:c.807-230A>G MANE Select	ENSP00000355812.3:n.807-230A>G
ENST00000349556.4:c.747-230A>G	ENSP00000230248.6:n.747-230A>G
ENST00000366847.8:c.807-230A>G	ENSP00000355812.3:n.807-230A>G
ENST00000496181.1:n.211-230A>G
ENST00000622353.4:c.666-230A>G	ENSP00000479115.1:n.666-230A>G
NM_001278690.1:c.666-230A>G	NP_001265619.1:n.666-230A>G
NM_007045.3:c.807-230A>G	NP_008976.1:n.807-230A>G
NM_194429.2:c.747-230A>G	NP_919410.1:n.747-230A>G
NM_007045.4:c.807-230A>G MANE Select	NP_008976.1:n.807-230A>G
NM_194429.3:c.747-230A>G	NP_919410.1:n.747-230A>G
NM_001278690.2:c.666-230A>G	NP_001265619.1:n.666-230A>G