Canonical Allele Identifier: CA366409911

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024831-G-A
• MyVariant Identifiers: chr6:g.167438319G>A (hg19) ; chr6:g.167024831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024831G>A , CM000668.2:g.167024831G>A	GRCh38
NC_000006.11:g.167438319G>A , CM000668.1:g.167438319G>A	GRCh37
NC_000006.10:g.167358309G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.796G>A	ENSP00000230248.6:p.Ala266Thr
ENST00000488525.2:c.852G>A	ENSP00000516042.1:p.Met284Ile
ENST00000609590.2:n.1728G>A
ENST00000704900.1:c.433G>A	ENSP00000516059.1:p.Ala145Thr
ENST00000704901.1:c.*443G>A	ENSP00000516060.1:n.*443G>A
ENST00000704959.1:n.1121G>A
ENST00000704982.1:n.1566G>A
ENST00000704985.1:n.1962G>A
ENST00000704986.1:n.1962G>A
ENST00000705029.1:n.1687G>A
ENST00000705059.1:n.1511G>A
ENST00000705168.1:c.109G>A	ENSP00000516071.1:p.Ala37Thr
ENST00000705169.1:c.109G>A	ENSP00000516072.1:p.Ala37Thr
ENST00000705170.1:c.109G>A	ENSP00000516073.1:p.Ala37Thr
ENST00000705171.1:n.901G>A
ENST00000705173.1:c.*165G>A	ENSP00000516075.1:n.*165G>A
ENST00000705175.1:c.982G>A	ENSP00000516077.1:p.Ala328Thr
ENST00000705176.1:c.1042G>A	ENSP00000516078.1:p.Ala348Thr
ENST00000705177.1:c.*440G>A	ENSP00000516079.1:n.*440G>A
ENST00000705178.1:c.379G>A	ENSP00000516080.1:p.Ala127Thr
ENST00000705179.1:c.574G>A	ENSP00000516081.1:p.Ala192Thr
ENST00000705180.1:c.514G>A	ENSP00000516082.1:p.Ala172Thr
ENST00000705235.1:c.856G>A	ENSP00000516093.1:p.Ala286Thr
ENST00000705236.1:c.796G>A	ENSP00000516094.1:p.Ala266Thr
ENST00000705237.1:c.514G>A	ENSP00000516095.1:p.Ala172Thr
ENST00000705238.1:c.715G>A	ENSP00000516096.1:p.Ala239Thr
ENST00000705239.1:c.793G>A	ENSP00000516097.1:p.Ala265Thr
ENST00000705240.1:c.*465G>A	ENSP00000516098.1:n.*465G>A
ENST00000705241.1:c.792G>A	ENSP00000516099.1:p.Met264Ile
ENST00000705242.1:c.793G>A	ENSP00000516100.1:p.Ala265Thr
ENST00000705249.1:c.796G>A	ENSP00000516101.1:p.Ala266Thr
ENST00000705250.1:c.574G>A	ENSP00000516102.1:p.Ala192Thr
ENST00000705251.1:c.*443G>A	ENSP00000516103.1:n.*443G>A
ENST00000705252.1:c.*266G>A	ENSP00000516104.1:n.*266G>A
ENST00000705253.1:c.*266G>A	ENSP00000516105.1:n.*266G>A
ENST00000705254.1:c.403G>A	ENSP00000516106.1:p.Ala135Thr
ENST00000705255.1:n.1422G>A
ENST00000705256.1:c.853G>A	ENSP00000516107.1:p.Ala285Thr
ENST00000366847.9:c.856G>A MANE Select	ENSP00000355812.3:p.Ala286Thr
ENST00000349556.4:c.796G>A	ENSP00000230248.6:p.Ala266Thr
ENST00000366847.8:c.856G>A	ENSP00000355812.3:p.Ala286Thr
ENST00000488525.1:n.42G>A
ENST00000496181.1:n.260G>A
ENST00000622353.4:c.715G>A	ENSP00000479115.1:p.Ala239Thr
NM_001278690.1:c.715G>A	NP_001265619.1:p.Ala239Thr
NM_007045.3:c.856G>A	NP_008976.1:p.Ala286Thr
NM_194429.2:c.796G>A	NP_919410.1:p.Ala266Thr
NM_007045.4:c.856G>A MANE Select	NP_008976.1:p.Ala286Thr
NM_194429.3:c.796G>A	NP_919410.1:p.Ala266Thr
NM_001278690.2:c.715G>A	NP_001265619.1:p.Ala239Thr