Canonical Allele Identifier: CA1097048217

Gene: CEP43

Linked Data

• dbSNP Id: rs1780308264
• gnomAD v3: 6-167024455-T-C
• gnomAD v4: 6-167024455-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024455T>C , CM000668.2:g.167024455T>C	GRCh38
NC_000006.11:g.167437943T>C , CM000668.1:g.167437943T>C	GRCh37
NC_000006.10:g.167357933T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000349556.5:c.747-327T>C	ENSP00000230248.6:n.747-327T>C
ENST00000488525.2:c.803-327T>C	ENSP00000516042.1:n.803-327T>C
ENST00000609590.2:n.1682-330T>C
ENST00000704900.1:c.384-327T>C	ENSP00000516059.1:n.384-327T>C
ENST00000704901.1:c.*394-327T>C	ENSP00000516060.1:n.*394-327T>C
ENST00000704959.1:n.1072-327T>C
ENST00000704982.1:n.1517-327T>C
ENST00000704985.1:n.1913-327T>C
ENST00000704986.1:n.1913-327T>C
ENST00000705029.1:n.1311T>C
ENST00000705059.1:n.1462-327T>C
ENST00000705168.1:c.60-327T>C	ENSP00000516071.1:n.60-327T>C
ENST00000705169.1:c.60-327T>C	ENSP00000516072.1:n.60-327T>C
ENST00000705170.1:c.60-327T>C	ENSP00000516073.1:n.60-327T>C
ENST00000705171.1:n.852-327T>C
ENST00000705173.1:c.*116-327T>C	ENSP00000516075.1:n.*116-327T>C
ENST00000705175.1:c.933-327T>C	ENSP00000516077.1:n.933-327T>C
ENST00000705176.1:c.993-327T>C	ENSP00000516078.1:n.993-327T>C
ENST00000705177.1:c.*391-327T>C	ENSP00000516079.1:n.*391-327T>C
ENST00000705178.1:c.330-327T>C	ENSP00000516080.1:n.330-327T>C
ENST00000705179.1:c.525-327T>C	ENSP00000516081.1:n.525-327T>C
ENST00000705180.1:c.465-327T>C	ENSP00000516082.1:n.465-327T>C
ENST00000705235.1:c.807-327T>C	ENSP00000516093.1:n.807-327T>C
ENST00000705236.1:c.747-327T>C	ENSP00000516094.1:n.747-327T>C
ENST00000705237.1:c.465-327T>C	ENSP00000516095.1:n.465-327T>C
ENST00000705238.1:c.666-327T>C	ENSP00000516096.1:n.666-327T>C
ENST00000705239.1:c.747-330T>C	ENSP00000516097.1:n.747-330T>C
ENST00000705240.1:c.*416-327T>C	ENSP00000516098.1:n.*416-327T>C
ENST00000705241.1:c.743-327T>C	ENSP00000516099.1:n.743-327T>C
ENST00000705242.1:c.744-327T>C	ENSP00000516100.1:n.744-327T>C
ENST00000705249.1:c.747-327T>C	ENSP00000516101.1:n.747-327T>C
ENST00000705250.1:c.525-327T>C	ENSP00000516102.1:n.525-327T>C
ENST00000705251.1:c.*394-327T>C	ENSP00000516103.1:n.*394-327T>C
ENST00000705252.1:c.*217-327T>C	ENSP00000516104.1:n.*217-327T>C
ENST00000705253.1:c.*217-327T>C	ENSP00000516105.1:n.*217-327T>C
ENST00000705254.1:c.354-327T>C	ENSP00000516106.1:n.354-327T>C
ENST00000705255.1:n.1373-327T>C
ENST00000705256.1:c.807-330T>C	ENSP00000516107.1:n.807-330T>C
ENST00000366847.9:c.807-327T>C MANE Select	ENSP00000355812.3:n.807-327T>C
ENST00000349556.4:c.747-327T>C	ENSP00000230248.6:n.747-327T>C
ENST00000366847.8:c.807-327T>C	ENSP00000355812.3:n.807-327T>C
ENST00000496181.1:n.211-327T>C
ENST00000622353.4:c.666-327T>C	ENSP00000479115.1:n.666-327T>C
NM_001278690.1:c.666-327T>C	NP_001265619.1:n.666-327T>C
NM_007045.3:c.807-327T>C	NP_008976.1:n.807-327T>C
NM_194429.2:c.747-327T>C	NP_919410.1:n.747-327T>C
NM_007045.4:c.807-327T>C MANE Select	NP_008976.1:n.807-327T>C
NM_194429.3:c.747-327T>C	NP_919410.1:n.747-327T>C
NM_001278690.2:c.666-327T>C	NP_001265619.1:n.666-327T>C