Canonical Allele Identifier: CA453081449

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024854-C-G
• MyVariant Identifiers: chr6:g.167438342C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024854C>G , CM000668.2:g.167024854C>G	GRCh38
NC_000006.11:g.167438342C>G , CM000668.1:g.167438342C>G	GRCh37
NC_000006.10:g.167358332C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.819C>G	ENSP00000230248.6:p.Leu273=
ENST00000488525.2:c.*11C>G	ENSP00000516042.1:n.*11C>G
ENST00000609590.2:n.1751C>G
ENST00000704900.1:c.456C>G	ENSP00000516059.1:p.Leu152=
ENST00000704901.1:c.*466C>G	ENSP00000516060.1:n.*466C>G
ENST00000704959.1:n.1144C>G
ENST00000704982.1:n.1589C>G
ENST00000704985.1:n.1985C>G
ENST00000704986.1:n.1985C>G
ENST00000705029.1:n.1710C>G
ENST00000705059.1:n.1534C>G
ENST00000705168.1:c.132C>G	ENSP00000516071.1:p.Leu44=
ENST00000705169.1:c.132C>G	ENSP00000516072.1:p.Leu44=
ENST00000705170.1:c.132C>G	ENSP00000516073.1:p.Leu44=
ENST00000705171.1:n.924C>G
ENST00000705173.1:c.*188C>G	ENSP00000516075.1:n.*188C>G
ENST00000705175.1:c.1005C>G	ENSP00000516077.1:p.Leu335=
ENST00000705176.1:c.1065C>G	ENSP00000516078.1:p.Leu355=
ENST00000705177.1:c.*463C>G	ENSP00000516079.1:n.*463C>G
ENST00000705178.1:c.402C>G	ENSP00000516080.1:p.Leu134=
ENST00000705179.1:c.597C>G	ENSP00000516081.1:p.Leu199=
ENST00000705180.1:c.537C>G	ENSP00000516082.1:p.Leu179=
ENST00000705235.1:c.879C>G	ENSP00000516093.1:p.Leu293=
ENST00000705236.1:c.819C>G	ENSP00000516094.1:p.Leu273=
ENST00000705237.1:c.537C>G	ENSP00000516095.1:p.Leu179=
ENST00000705238.1:c.738C>G	ENSP00000516096.1:p.Leu246=
ENST00000705239.1:c.816C>G	ENSP00000516097.1:p.Leu272=
ENST00000705240.1:c.*488C>G	ENSP00000516098.1:n.*488C>G
ENST00000705241.1:c.*11C>G	ENSP00000516099.1:n.*11C>G
ENST00000705242.1:c.816C>G	ENSP00000516100.1:p.Leu272=
ENST00000705249.1:c.819C>G	ENSP00000516101.1:p.Leu273=
ENST00000705250.1:c.597C>G	ENSP00000516102.1:p.Leu199=
ENST00000705251.1:c.*466C>G	ENSP00000516103.1:n.*466C>G
ENST00000705252.1:c.*289C>G	ENSP00000516104.1:n.*289C>G
ENST00000705253.1:c.*289C>G	ENSP00000516105.1:n.*289C>G
ENST00000705254.1:c.426C>G	ENSP00000516106.1:p.Leu142=
ENST00000705255.1:n.1445C>G
ENST00000705256.1:c.876C>G	ENSP00000516107.1:p.Leu292=
ENST00000366847.9:c.879C>G MANE Select	ENSP00000355812.3:p.Leu293=
ENST00000349556.4:c.819C>G	ENSP00000230248.6:p.Leu273=
ENST00000366847.8:c.879C>G	ENSP00000355812.3:p.Leu293=
ENST00000488525.1:n.65C>G
ENST00000496181.1:n.283C>G
ENST00000622353.4:c.738C>G	ENSP00000479115.1:p.Leu246=
NM_001278690.1:c.738C>G	NP_001265619.1:p.Leu246=
NM_007045.3:c.879C>G	NP_008976.1:p.Leu293=
NM_194429.2:c.819C>G	NP_919410.1:p.Leu273=
NM_007045.4:c.879C>G MANE Select	NP_008976.1:p.Leu293=
NM_194429.3:c.819C>G	NP_919410.1:p.Leu273=
NM_001278690.2:c.738C>G	NP_001265619.1:p.Leu246=