Canonical Allele Identifier: CA366409972

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024859-C-T
• COSMIC: COSM3622806
• MyVariant Identifiers: chr6:g.167438347C>T (hg19) ; chr6:g.167024859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024859C>T , CM000668.2:g.167024859C>T	GRCh38
NC_000006.11:g.167438347C>T , CM000668.1:g.167438347C>T	GRCh37
NC_000006.10:g.167358337C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.824C>T	ENSP00000230248.6:p.Ser275Phe
ENST00000488525.2:c.*16C>T	ENSP00000516042.1:n.*16C>T
ENST00000609590.2:n.1756C>T
ENST00000704900.1:c.461C>T	ENSP00000516059.1:p.Ser154Phe
ENST00000704901.1:c.*471C>T	ENSP00000516060.1:n.*471C>T
ENST00000704959.1:n.1149C>T
ENST00000704982.1:n.1594C>T
ENST00000704985.1:n.1990C>T
ENST00000704986.1:n.1990C>T
ENST00000705029.1:n.1715C>T
ENST00000705059.1:n.1539C>T
ENST00000705168.1:c.137C>T	ENSP00000516071.1:p.Ser46Phe
ENST00000705169.1:c.137C>T	ENSP00000516072.1:p.Ser46Phe
ENST00000705170.1:c.137C>T	ENSP00000516073.1:p.Ser46Phe
ENST00000705171.1:n.929C>T
ENST00000705173.1:c.*193C>T	ENSP00000516075.1:n.*193C>T
ENST00000705175.1:c.1010C>T	ENSP00000516077.1:p.Ser337Phe
ENST00000705176.1:c.1070C>T	ENSP00000516078.1:p.Ser357Phe
ENST00000705177.1:c.*468C>T	ENSP00000516079.1:n.*468C>T
ENST00000705178.1:c.407C>T	ENSP00000516080.1:p.Ser136Phe
ENST00000705179.1:c.602C>T	ENSP00000516081.1:p.Ser201Phe
ENST00000705180.1:c.542C>T	ENSP00000516082.1:p.Ser181Phe
ENST00000705235.1:c.884C>T	ENSP00000516093.1:p.Ser295Phe
ENST00000705236.1:c.824C>T	ENSP00000516094.1:p.Ser275Phe
ENST00000705237.1:c.542C>T	ENSP00000516095.1:p.Ser181Phe
ENST00000705238.1:c.743C>T	ENSP00000516096.1:p.Ser248Phe
ENST00000705239.1:c.821C>T	ENSP00000516097.1:p.Ser274Phe
ENST00000705240.1:c.*493C>T	ENSP00000516098.1:n.*493C>T
ENST00000705241.1:c.*16C>T	ENSP00000516099.1:n.*16C>T
ENST00000705242.1:c.821C>T	ENSP00000516100.1:p.Ser274Phe
ENST00000705249.1:c.824C>T	ENSP00000516101.1:p.Ser275Phe
ENST00000705250.1:c.602C>T	ENSP00000516102.1:p.Ser201Phe
ENST00000705251.1:c.*471C>T	ENSP00000516103.1:n.*471C>T
ENST00000705252.1:c.*294C>T	ENSP00000516104.1:n.*294C>T
ENST00000705253.1:c.*294C>T	ENSP00000516105.1:n.*294C>T
ENST00000705254.1:c.431C>T	ENSP00000516106.1:p.Ser144Phe
ENST00000705255.1:n.1450C>T
ENST00000705256.1:c.881C>T	ENSP00000516107.1:p.Ser294Phe
ENST00000366847.9:c.884C>T MANE Select	ENSP00000355812.3:p.Ser295Phe
ENST00000349556.4:c.824C>T	ENSP00000230248.6:p.Ser275Phe
ENST00000366847.8:c.884C>T	ENSP00000355812.3:p.Ser295Phe
ENST00000488525.1:n.70C>T
ENST00000496181.1:n.288C>T
ENST00000622353.4:c.743C>T	ENSP00000479115.1:p.Ser248Phe
NM_001278690.1:c.743C>T	NP_001265619.1:p.Ser248Phe
NM_007045.3:c.884C>T	NP_008976.1:p.Ser295Phe
NM_194429.2:c.824C>T	NP_919410.1:p.Ser275Phe
NM_007045.4:c.884C>T MANE Select	NP_008976.1:p.Ser295Phe
NM_194429.3:c.824C>T	NP_919410.1:p.Ser275Phe
NM_001278690.2:c.743C>T	NP_001265619.1:p.Ser248Phe