Canonical Allele Identifier: CA453081489

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024878-T-C
• MyVariant Identifiers: chr6:g.167438366T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024878T>C , CM000668.2:g.167024878T>C	GRCh38
NC_000006.11:g.167438366T>C , CM000668.1:g.167438366T>C	GRCh37
NC_000006.10:g.167358356T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.843T>C	ENSP00000230248.6:p.Ser281=
ENST00000488525.2:c.*35T>C	ENSP00000516042.1:n.*35T>C
ENST00000609590.2:n.1775T>C
ENST00000704900.1:c.480T>C	ENSP00000516059.1:p.Ser160=
ENST00000704901.1:c.*490T>C	ENSP00000516060.1:n.*490T>C
ENST00000704959.1:n.1168T>C
ENST00000704982.1:n.1613T>C
ENST00000704985.1:n.2009T>C
ENST00000704986.1:n.2009T>C
ENST00000705029.1:n.1734T>C
ENST00000705059.1:n.1558T>C
ENST00000705168.1:c.156T>C	ENSP00000516071.1:p.Ser52=
ENST00000705169.1:c.156T>C	ENSP00000516072.1:p.Ser52=
ENST00000705170.1:c.156T>C	ENSP00000516073.1:p.Ser52=
ENST00000705171.1:n.948T>C
ENST00000705173.1:c.*212T>C	ENSP00000516075.1:n.*212T>C
ENST00000705175.1:c.1029T>C	ENSP00000516077.1:p.Ser343=
ENST00000705176.1:c.1089T>C	ENSP00000516078.1:p.Ser363=
ENST00000705177.1:c.*487T>C	ENSP00000516079.1:n.*487T>C
ENST00000705178.1:c.426T>C	ENSP00000516080.1:p.Ser142=
ENST00000705179.1:c.621T>C	ENSP00000516081.1:p.Ser207=
ENST00000705180.1:c.561T>C	ENSP00000516082.1:p.Ser187=
ENST00000705235.1:c.903T>C	ENSP00000516093.1:p.Ser301=
ENST00000705236.1:c.843T>C	ENSP00000516094.1:p.Ser281=
ENST00000705237.1:c.561T>C	ENSP00000516095.1:p.Ser187=
ENST00000705238.1:c.762T>C	ENSP00000516096.1:p.Ser254=
ENST00000705239.1:c.840T>C	ENSP00000516097.1:p.Ser280=
ENST00000705240.1:c.*512T>C	ENSP00000516098.1:n.*512T>C
ENST00000705241.1:c.*35T>C	ENSP00000516099.1:n.*35T>C
ENST00000705242.1:c.840T>C	ENSP00000516100.1:p.Ser280=
ENST00000705249.1:c.843T>C	ENSP00000516101.1:p.Ser281=
ENST00000705250.1:c.621T>C	ENSP00000516102.1:p.Ser207=
ENST00000705251.1:c.*490T>C	ENSP00000516103.1:n.*490T>C
ENST00000705252.1:c.*313T>C	ENSP00000516104.1:n.*313T>C
ENST00000705253.1:c.*313T>C	ENSP00000516105.1:n.*313T>C
ENST00000705254.1:c.450T>C	ENSP00000516106.1:p.Ser150=
ENST00000705255.1:n.1469T>C
ENST00000705256.1:c.900T>C	ENSP00000516107.1:p.Ser300=
ENST00000366847.9:c.903T>C MANE Select	ENSP00000355812.3:p.Ser301=
ENST00000349556.4:c.843T>C	ENSP00000230248.6:p.Ser281=
ENST00000366847.8:c.903T>C	ENSP00000355812.3:p.Ser301=
ENST00000488525.1:n.89T>C
ENST00000496181.1:n.307T>C
ENST00000622353.4:c.762T>C	ENSP00000479115.1:p.Ser254=
NM_001278690.1:c.762T>C	NP_001265619.1:p.Ser254=
NM_007045.3:c.903T>C	NP_008976.1:p.Ser301=
NM_194429.2:c.843T>C	NP_919410.1:p.Ser281=
NM_007045.4:c.903T>C MANE Select	NP_008976.1:p.Ser301=
NM_194429.3:c.843T>C	NP_919410.1:p.Ser281=
NM_001278690.2:c.762T>C	NP_001265619.1:p.Ser254=