Canonical Allele Identifier: CA453081431

Gene: CEP43

Linked Data

• dbSNP Id: rs1344345199
• gnomAD v3: 6-167024836-C-G
• gnomAD v4: 6-167024836-C-G
• MyVariant Identifiers: chr6:g.167438324C>G (hg19) ; chr6:g.167024836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024836C>G , CM000668.2:g.167024836C>G	GRCh38
NC_000006.11:g.167438324C>G , CM000668.1:g.167438324C>G	GRCh37
NC_000006.10:g.167358314C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.801C>G	ENSP00000230248.6:p.Pro267=
ENST00000488525.2:c.857C>G	ENSP00000516042.1:p.Pro286Arg
ENST00000609590.2:n.1733C>G
ENST00000704900.1:c.438C>G	ENSP00000516059.1:p.Pro146=
ENST00000704901.1:c.*448C>G	ENSP00000516060.1:n.*448C>G
ENST00000704959.1:n.1126C>G
ENST00000704982.1:n.1571C>G
ENST00000704985.1:n.1967C>G
ENST00000704986.1:n.1967C>G
ENST00000705029.1:n.1692C>G
ENST00000705059.1:n.1516C>G
ENST00000705168.1:c.114C>G	ENSP00000516071.1:p.Pro38=
ENST00000705169.1:c.114C>G	ENSP00000516072.1:p.Pro38=
ENST00000705170.1:c.114C>G	ENSP00000516073.1:p.Pro38=
ENST00000705171.1:n.906C>G
ENST00000705173.1:c.*170C>G	ENSP00000516075.1:n.*170C>G
ENST00000705175.1:c.987C>G	ENSP00000516077.1:p.Pro329=
ENST00000705176.1:c.1047C>G	ENSP00000516078.1:p.Pro349=
ENST00000705177.1:c.*445C>G	ENSP00000516079.1:n.*445C>G
ENST00000705178.1:c.384C>G	ENSP00000516080.1:p.Pro128=
ENST00000705179.1:c.579C>G	ENSP00000516081.1:p.Pro193=
ENST00000705180.1:c.519C>G	ENSP00000516082.1:p.Pro173=
ENST00000705235.1:c.861C>G	ENSP00000516093.1:p.Pro287=
ENST00000705236.1:c.801C>G	ENSP00000516094.1:p.Pro267=
ENST00000705237.1:c.519C>G	ENSP00000516095.1:p.Pro173=
ENST00000705238.1:c.720C>G	ENSP00000516096.1:p.Pro240=
ENST00000705239.1:c.798C>G	ENSP00000516097.1:p.Pro266=
ENST00000705240.1:c.*470C>G	ENSP00000516098.1:n.*470C>G
ENST00000705241.1:c.797C>G	ENSP00000516099.1:p.Pro266Arg
ENST00000705242.1:c.798C>G	ENSP00000516100.1:p.Pro266=
ENST00000705249.1:c.801C>G	ENSP00000516101.1:p.Pro267=
ENST00000705250.1:c.579C>G	ENSP00000516102.1:p.Pro193=
ENST00000705251.1:c.*448C>G	ENSP00000516103.1:n.*448C>G
ENST00000705252.1:c.*271C>G	ENSP00000516104.1:n.*271C>G
ENST00000705253.1:c.*271C>G	ENSP00000516105.1:n.*271C>G
ENST00000705254.1:c.408C>G	ENSP00000516106.1:p.Pro136=
ENST00000705255.1:n.1427C>G
ENST00000705256.1:c.858C>G	ENSP00000516107.1:p.Pro286=
ENST00000366847.9:c.861C>G MANE Select	ENSP00000355812.3:p.Pro287=
ENST00000349556.4:c.801C>G	ENSP00000230248.6:p.Pro267=
ENST00000366847.8:c.861C>G	ENSP00000355812.3:p.Pro287=
ENST00000488525.1:n.47C>G
ENST00000496181.1:n.265C>G
ENST00000622353.4:c.720C>G	ENSP00000479115.1:p.Pro240=
NM_001278690.1:c.720C>G	NP_001265619.1:p.Pro240=
NM_007045.3:c.861C>G	NP_008976.1:p.Pro287=
NM_194429.2:c.801C>G	NP_919410.1:p.Pro267=
NM_007045.4:c.861C>G MANE Select	NP_008976.1:p.Pro287=
NM_194429.3:c.801C>G	NP_919410.1:p.Pro267=
NM_001278690.2:c.720C>G	NP_001265619.1:p.Pro240=