Canonical Allele Identifier: CA366409955

Gene: CEP43

Linked Data

• dbSNP Id: rs1178893872
• gnomAD v3: 6-167024852-C-T
• gnomAD v4: 6-167024852-C-T
• MyVariant Identifiers: chr6:g.167438340C>T (hg19) ; chr6:g.167024852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024852C>T , CM000668.2:g.167024852C>T	GRCh38
NC_000006.11:g.167438340C>T , CM000668.1:g.167438340C>T	GRCh37
NC_000006.10:g.167358330C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.817C>T	ENSP00000230248.6:p.Leu273Phe
ENST00000488525.2:c.*9C>T	ENSP00000516042.1:n.*9C>T
ENST00000609590.2:n.1749C>T
ENST00000704900.1:c.454C>T	ENSP00000516059.1:p.Leu152Phe
ENST00000704901.1:c.*464C>T	ENSP00000516060.1:n.*464C>T
ENST00000704959.1:n.1142C>T
ENST00000704982.1:n.1587C>T
ENST00000704985.1:n.1983C>T
ENST00000704986.1:n.1983C>T
ENST00000705029.1:n.1708C>T
ENST00000705059.1:n.1532C>T
ENST00000705168.1:c.130C>T	ENSP00000516071.1:p.Leu44Phe
ENST00000705169.1:c.130C>T	ENSP00000516072.1:p.Leu44Phe
ENST00000705170.1:c.130C>T	ENSP00000516073.1:p.Leu44Phe
ENST00000705171.1:n.922C>T
ENST00000705173.1:c.*186C>T	ENSP00000516075.1:n.*186C>T
ENST00000705175.1:c.1003C>T	ENSP00000516077.1:p.Leu335Phe
ENST00000705176.1:c.1063C>T	ENSP00000516078.1:p.Leu355Phe
ENST00000705177.1:c.*461C>T	ENSP00000516079.1:n.*461C>T
ENST00000705178.1:c.400C>T	ENSP00000516080.1:p.Leu134Phe
ENST00000705179.1:c.595C>T	ENSP00000516081.1:p.Leu199Phe
ENST00000705180.1:c.535C>T	ENSP00000516082.1:p.Leu179Phe
ENST00000705235.1:c.877C>T	ENSP00000516093.1:p.Leu293Phe
ENST00000705236.1:c.817C>T	ENSP00000516094.1:p.Leu273Phe
ENST00000705237.1:c.535C>T	ENSP00000516095.1:p.Leu179Phe
ENST00000705238.1:c.736C>T	ENSP00000516096.1:p.Leu246Phe
ENST00000705239.1:c.814C>T	ENSP00000516097.1:p.Leu272Phe
ENST00000705240.1:c.*486C>T	ENSP00000516098.1:n.*486C>T
ENST00000705241.1:c.*9C>T	ENSP00000516099.1:n.*9C>T
ENST00000705242.1:c.814C>T	ENSP00000516100.1:p.Leu272Phe
ENST00000705249.1:c.817C>T	ENSP00000516101.1:p.Leu273Phe
ENST00000705250.1:c.595C>T	ENSP00000516102.1:p.Leu199Phe
ENST00000705251.1:c.*464C>T	ENSP00000516103.1:n.*464C>T
ENST00000705252.1:c.*287C>T	ENSP00000516104.1:n.*287C>T
ENST00000705253.1:c.*287C>T	ENSP00000516105.1:n.*287C>T
ENST00000705254.1:c.424C>T	ENSP00000516106.1:p.Leu142Phe
ENST00000705255.1:n.1443C>T
ENST00000705256.1:c.874C>T	ENSP00000516107.1:p.Leu292Phe
ENST00000366847.9:c.877C>T MANE Select	ENSP00000355812.3:p.Leu293Phe
ENST00000349556.4:c.817C>T	ENSP00000230248.6:p.Leu273Phe
ENST00000366847.8:c.877C>T	ENSP00000355812.3:p.Leu293Phe
ENST00000488525.1:n.63C>T
ENST00000496181.1:n.281C>T
ENST00000622353.4:c.736C>T	ENSP00000479115.1:p.Leu246Phe
NM_001278690.1:c.736C>T	NP_001265619.1:p.Leu246Phe
NM_007045.3:c.877C>T	NP_008976.1:p.Leu293Phe
NM_194429.2:c.817C>T	NP_919410.1:p.Leu273Phe
NM_007045.4:c.877C>T MANE Select	NP_008976.1:p.Leu293Phe
NM_194429.3:c.817C>T	NP_919410.1:p.Leu273Phe
NM_001278690.2:c.736C>T	NP_001265619.1:p.Leu246Phe