Canonical Allele Identifier: CA4095566

Gene: CEP43

Linked Data

• dbSNP Id: rs372855523
• ExAC: 6:167438388 T / C
• gnomAD v2: 6-167438388-T-C
• MyVariant Identifiers: chr6:g.167438388T>C (hg19) ; chr6:g.167024900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024900T>C , CM000668.2:g.167024900T>C	GRCh38
NC_000006.11:g.167438388T>C , CM000668.1:g.167438388T>C	GRCh37
NC_000006.10:g.167358378T>C	NCBI36

Transcript Alleles

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