Canonical Allele Identifier: CA151913213

Gene: CEP43

Linked Data

• dbSNP Id: rs146053844
• gnomAD v4: 6-167024799-A-G
• MyVariant Identifiers: chr6:g.167438287A>G (hg19) ; chr6:g.167024799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024799A>G , CM000668.2:g.167024799A>G	GRCh38
NC_000006.11:g.167438287A>G , CM000668.1:g.167438287A>G	GRCh37
NC_000006.10:g.167358277A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.764A>G	ENSP00000230248.6:p.Lys255Arg
ENST00000488525.2:c.820A>G	ENSP00000516042.1:p.Ser274Gly
ENST00000609590.2:n.1696A>G
ENST00000704900.1:c.401A>G	ENSP00000516059.1:p.Lys134Arg
ENST00000704901.1:c.*411A>G	ENSP00000516060.1:n.*411A>G
ENST00000704959.1:n.1089A>G
ENST00000704982.1:n.1534A>G
ENST00000704985.1:n.1930A>G
ENST00000704986.1:n.1930A>G
ENST00000705029.1:n.1655A>G
ENST00000705059.1:n.1479A>G
ENST00000705168.1:c.77A>G	ENSP00000516071.1:p.Lys26Arg
ENST00000705169.1:c.77A>G	ENSP00000516072.1:p.Lys26Arg
ENST00000705170.1:c.77A>G	ENSP00000516073.1:p.Lys26Arg
ENST00000705171.1:n.869A>G
ENST00000705173.1:c.*133A>G	ENSP00000516075.1:n.*133A>G
ENST00000705175.1:c.950A>G	ENSP00000516077.1:p.Lys317Arg
ENST00000705176.1:c.1010A>G	ENSP00000516078.1:p.Lys337Arg
ENST00000705177.1:c.*408A>G	ENSP00000516079.1:n.*408A>G
ENST00000705178.1:c.347A>G	ENSP00000516080.1:p.Lys116Arg
ENST00000705179.1:c.542A>G	ENSP00000516081.1:p.Lys181Arg
ENST00000705180.1:c.482A>G	ENSP00000516082.1:p.Lys161Arg
ENST00000705235.1:c.824A>G	ENSP00000516093.1:p.Lys275Arg
ENST00000705236.1:c.764A>G	ENSP00000516094.1:p.Lys255Arg
ENST00000705237.1:c.482A>G	ENSP00000516095.1:p.Lys161Arg
ENST00000705238.1:c.683A>G	ENSP00000516096.1:p.Lys228Arg
ENST00000705239.1:c.761A>G	ENSP00000516097.1:p.Lys254Arg
ENST00000705240.1:c.*433A>G	ENSP00000516098.1:n.*433A>G
ENST00000705241.1:c.760A>G	ENSP00000516099.1:p.Ser254Gly
ENST00000705242.1:c.761A>G	ENSP00000516100.1:p.Lys254Arg
ENST00000705249.1:c.764A>G	ENSP00000516101.1:p.Lys255Arg
ENST00000705250.1:c.542A>G	ENSP00000516102.1:p.Lys181Arg
ENST00000705251.1:c.*411A>G	ENSP00000516103.1:n.*411A>G
ENST00000705252.1:c.*234A>G	ENSP00000516104.1:n.*234A>G
ENST00000705253.1:c.*234A>G	ENSP00000516105.1:n.*234A>G
ENST00000705254.1:c.371A>G	ENSP00000516106.1:p.Lys124Arg
ENST00000705255.1:n.1390A>G
ENST00000705256.1:c.821A>G	ENSP00000516107.1:p.Lys274Arg
ENST00000366847.9:c.824A>G MANE Select	ENSP00000355812.3:p.Lys275Arg
ENST00000349556.4:c.764A>G	ENSP00000230248.6:p.Lys255Arg
ENST00000366847.8:c.824A>G	ENSP00000355812.3:p.Lys275Arg
ENST00000488525.1:n.10A>G
ENST00000496181.1:n.228A>G
ENST00000622353.4:c.683A>G	ENSP00000479115.1:p.Lys228Arg
NM_001278690.1:c.683A>G	NP_001265619.1:p.Lys228Arg
NM_007045.3:c.824A>G	NP_008976.1:p.Lys275Arg
NM_194429.2:c.764A>G	NP_919410.1:p.Lys255Arg
NM_007045.4:c.824A>G MANE Select	NP_008976.1:p.Lys275Arg
NM_194429.3:c.764A>G	NP_919410.1:p.Lys255Arg
NM_001278690.2:c.683A>G	NP_001265619.1:p.Lys228Arg