Canonical Allele Identifier: CA453081408

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024806-A-G
• MyVariant Identifiers: chr6:g.167438294A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024806A>G , CM000668.2:g.167024806A>G	GRCh38
NC_000006.11:g.167438294A>G , CM000668.1:g.167438294A>G	GRCh37
NC_000006.10:g.167358284A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.771A>G	ENSP00000230248.6:p.Ala257=
ENST00000488525.2:c.827A>G	ENSP00000516042.1:p.Gln276Arg
ENST00000609590.2:n.1703A>G
ENST00000704900.1:c.408A>G	ENSP00000516059.1:p.Ala136=
ENST00000704901.1:c.*418A>G	ENSP00000516060.1:n.*418A>G
ENST00000704959.1:n.1096A>G
ENST00000704982.1:n.1541A>G
ENST00000704985.1:n.1937A>G
ENST00000704986.1:n.1937A>G
ENST00000705029.1:n.1662A>G
ENST00000705059.1:n.1486A>G
ENST00000705168.1:c.84A>G	ENSP00000516071.1:p.Ala28=
ENST00000705169.1:c.84A>G	ENSP00000516072.1:p.Ala28=
ENST00000705170.1:c.84A>G	ENSP00000516073.1:p.Ala28=
ENST00000705171.1:n.876A>G
ENST00000705173.1:c.*140A>G	ENSP00000516075.1:n.*140A>G
ENST00000705175.1:c.957A>G	ENSP00000516077.1:p.Ala319=
ENST00000705176.1:c.1017A>G	ENSP00000516078.1:p.Ala339=
ENST00000705177.1:c.*415A>G	ENSP00000516079.1:n.*415A>G
ENST00000705178.1:c.354A>G	ENSP00000516080.1:p.Ala118=
ENST00000705179.1:c.549A>G	ENSP00000516081.1:p.Ala183=
ENST00000705180.1:c.489A>G	ENSP00000516082.1:p.Ala163=
ENST00000705235.1:c.831A>G	ENSP00000516093.1:p.Ala277=
ENST00000705236.1:c.771A>G	ENSP00000516094.1:p.Ala257=
ENST00000705237.1:c.489A>G	ENSP00000516095.1:p.Ala163=
ENST00000705238.1:c.690A>G	ENSP00000516096.1:p.Ala230=
ENST00000705239.1:c.768A>G	ENSP00000516097.1:p.Ala256=
ENST00000705240.1:c.*440A>G	ENSP00000516098.1:n.*440A>G
ENST00000705241.1:c.767A>G	ENSP00000516099.1:p.Gln256Arg
ENST00000705242.1:c.768A>G	ENSP00000516100.1:p.Ala256=
ENST00000705249.1:c.771A>G	ENSP00000516101.1:p.Ala257=
ENST00000705250.1:c.549A>G	ENSP00000516102.1:p.Ala183=
ENST00000705251.1:c.*418A>G	ENSP00000516103.1:n.*418A>G
ENST00000705252.1:c.*241A>G	ENSP00000516104.1:n.*241A>G
ENST00000705253.1:c.*241A>G	ENSP00000516105.1:n.*241A>G
ENST00000705254.1:c.378A>G	ENSP00000516106.1:p.Ala126=
ENST00000705255.1:n.1397A>G
ENST00000705256.1:c.828A>G	ENSP00000516107.1:p.Ala276=
ENST00000366847.9:c.831A>G MANE Select	ENSP00000355812.3:p.Ala277=
ENST00000349556.4:c.771A>G	ENSP00000230248.6:p.Ala257=
ENST00000366847.8:c.831A>G	ENSP00000355812.3:p.Ala277=
ENST00000488525.1:n.17A>G
ENST00000496181.1:n.235A>G
ENST00000622353.4:c.690A>G	ENSP00000479115.1:p.Ala230=
NM_001278690.1:c.690A>G	NP_001265619.1:p.Ala230=
NM_007045.3:c.831A>G	NP_008976.1:p.Ala277=
NM_194429.2:c.771A>G	NP_919410.1:p.Ala257=
NM_007045.4:c.831A>G MANE Select	NP_008976.1:p.Ala277=
NM_194429.3:c.771A>G	NP_919410.1:p.Ala257=
NM_001278690.2:c.690A>G	NP_001265619.1:p.Ala230=