Canonical Allele Identifier: CA4095564

Gene: CEP43

Linked Data

• dbSNP Id: rs367630074
• ExAC: 6:167438373 G / A
• gnomAD v2: 6-167438373-G-A
• gnomAD v3: 6-167024885-G-A
• gnomAD v4: 6-167024885-G-A
• MyVariant Identifiers: chr6:g.167438373G>A (hg19) ; chr6:g.167024885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024885G>A , CM000668.2:g.167024885G>A	GRCh38
NC_000006.11:g.167438373G>A , CM000668.1:g.167438373G>A	GRCh37
NC_000006.10:g.167358363G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.850G>A	ENSP00000230248.6:p.Asp284Asn
ENST00000488525.2:c.*42G>A	ENSP00000516042.1:n.*42G>A
ENST00000609590.2:n.1782G>A
ENST00000704900.1:c.487G>A	ENSP00000516059.1:p.Asp163Asn
ENST00000704901.1:c.*497G>A	ENSP00000516060.1:n.*497G>A
ENST00000704959.1:n.1175G>A
ENST00000704982.1:n.1620G>A
ENST00000704985.1:n.2016G>A
ENST00000704986.1:n.2016G>A
ENST00000705029.1:n.1741G>A
ENST00000705059.1:n.1565G>A
ENST00000705168.1:c.163G>A	ENSP00000516071.1:p.Asp55Asn
ENST00000705169.1:c.163G>A	ENSP00000516072.1:p.Asp55Asn
ENST00000705170.1:c.163G>A	ENSP00000516073.1:p.Asp55Asn
ENST00000705171.1:n.955G>A
ENST00000705173.1:c.*219G>A	ENSP00000516075.1:n.*219G>A
ENST00000705175.1:c.1036G>A	ENSP00000516077.1:p.Asp346Asn
ENST00000705176.1:c.1096G>A	ENSP00000516078.1:p.Asp366Asn
ENST00000705177.1:c.*494G>A	ENSP00000516079.1:n.*494G>A
ENST00000705178.1:c.433G>A	ENSP00000516080.1:p.Asp145Asn
ENST00000705179.1:c.628G>A	ENSP00000516081.1:p.Asp210Asn
ENST00000705180.1:c.568G>A	ENSP00000516082.1:p.Asp190Asn
ENST00000705235.1:c.910G>A	ENSP00000516093.1:p.Asp304Asn
ENST00000705236.1:c.850G>A	ENSP00000516094.1:p.Asp284Asn
ENST00000705237.1:c.568G>A	ENSP00000516095.1:p.Asp190Asn
ENST00000705238.1:c.769G>A	ENSP00000516096.1:p.Asp257Asn
ENST00000705239.1:c.847G>A	ENSP00000516097.1:p.Asp283Asn
ENST00000705240.1:c.*519G>A	ENSP00000516098.1:n.*519G>A
ENST00000705241.1:c.*42G>A	ENSP00000516099.1:n.*42G>A
ENST00000705242.1:c.847G>A	ENSP00000516100.1:p.Asp283Asn
ENST00000705249.1:c.850G>A	ENSP00000516101.1:p.Asp284Asn
ENST00000705250.1:c.628G>A	ENSP00000516102.1:p.Asp210Asn
ENST00000705251.1:c.*497G>A	ENSP00000516103.1:n.*497G>A
ENST00000705252.1:c.*320G>A	ENSP00000516104.1:n.*320G>A
ENST00000705253.1:c.*320G>A	ENSP00000516105.1:n.*320G>A
ENST00000705254.1:c.457G>A	ENSP00000516106.1:p.Asp153Asn
ENST00000705255.1:n.1476G>A
ENST00000705256.1:c.907G>A	ENSP00000516107.1:p.Asp303Asn
ENST00000366847.9:c.910G>A MANE Select	ENSP00000355812.3:p.Asp304Asn
ENST00000349556.4:c.850G>A	ENSP00000230248.6:p.Asp284Asn
ENST00000366847.8:c.910G>A	ENSP00000355812.3:p.Asp304Asn
ENST00000488525.1:n.96G>A
ENST00000496181.1:n.314G>A
ENST00000622353.4:c.769G>A	ENSP00000479115.1:p.Asp257Asn
NM_001278690.1:c.769G>A	NP_001265619.1:p.Asp257Asn
NM_007045.3:c.910G>A	NP_008976.1:p.Asp304Asn
NM_194429.2:c.850G>A	NP_919410.1:p.Asp284Asn
NM_007045.4:c.910G>A MANE Select	NP_008976.1:p.Asp304Asn
NM_194429.3:c.850G>A	NP_919410.1:p.Asp284Asn
NM_001278690.2:c.769G>A	NP_001265619.1:p.Asp257Asn