Canonical Allele Identifier: CA351558

Gene: CEP104

Linked Data

• ClinVar Variation Id: 221274
• ClinVar RCV Id: RCV000207253 ; RCV003441789
• dbSNP Id: rs869025276
• gnomAD v3: 1-3839606-A-G
• gnomAD v4: 1-3839606-A-G
• MyVariant Identifiers: chr1:g.3756170A>G (hg19) ; chr1:g.3839606A>G (hg38)
• PubMed: PMID:26477546

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3839606A>G , CM000663.2:g.3839606A>G	GRCh38
NC_000001.10:g.3756170A>G , CM000663.1:g.3756170A>G	GRCh37
NC_000001.9:g.3746030A>G	NCBI36
NG_046726.1:g.22628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.735+2T>C MANE Select	ENSP00000367476.3:n.735+2T>C
ENST00000428079.6:c.735+2T>C	ENSP00000394989.2:n.735+2T>C
ENST00000461667.2:c.735+2T>C	ENSP00000463605.2:n.735+2T>C
ENST00000674544.1:c.561+2T>C	ENSP00000502641.1:n.561+2T>C
ENST00000674558.1:c.735+2T>C	ENSP00000501829.1:n.735+2T>C
ENST00000674623.1:c.735+2T>C	ENSP00000501733.1:n.735+2T>C
ENST00000674879.1:n.1072+2T>C
ENST00000674985.1:c.735+2T>C	ENSP00000502482.1:n.735+2T>C
ENST00000675108.1:c.*651+2T>C	ENSP00000502131.1:n.*651+2T>C
ENST00000675200.1:c.735+2T>C	ENSP00000502512.1:n.735+2T>C
ENST00000675334.1:n.539+2T>C
ENST00000675375.1:c.735+2T>C	ENSP00000502180.1:n.735+2T>C
ENST00000675520.1:n.1072+2T>C
ENST00000675666.1:c.735+2T>C	ENSP00000502548.1:n.735+2T>C
ENST00000675677.1:c.735+2T>C	ENSP00000501944.1:n.735+2T>C
ENST00000675750.1:c.*238+2T>C	ENSP00000502342.1:n.*238+2T>C
ENST00000675966.1:n.963+2T>C
ENST00000676009.1:c.735+2T>C	ENSP00000502246.1:n.735+2T>C
ENST00000676052.1:c.753+2T>C	ENSP00000502793.1:n.753+2T>C
ENST00000378230.7:c.735+2T>C	ENSP00000367476.3:n.735+2T>C
ENST00000428079.5:c.561+2T>C	ENSP00000394989.1:n.561+2T>C
ENST00000494653.5:n.1059+2T>C
NM_014704.3:c.735+2T>C	NP_055519.1:n.735+2T>C
XM_005244815.3:c.843+2T>C	XP_005244872.1:n.843+2T>C
XM_011542473.1:c.861+2T>C	XP_011540775.1:n.861+2T>C
XM_011542474.1:c.753+2T>C	XP_011540776.1:n.753+2T>C
XM_011542475.1:c.861+2T>C	XP_011540777.1:n.861+2T>C
XM_011542476.1:c.861+2T>C	XP_011540778.1:n.861+2T>C
XM_011542477.1:c.861+2T>C	XP_011540779.1:n.861+2T>C
XM_011542478.1:c.861+2T>C	XP_011540780.1:n.861+2T>C
XM_005244815.4:c.843+2T>C	XP_005244872.1:n.843+2T>C
XM_011542474.3:c.753+2T>C	XP_011540776.1:n.753+2T>C
XM_017002918.2:c.735+2T>C	XP_016858407.1:n.735+2T>C
XM_017002919.2:c.735+2T>C	XP_016858408.1:n.735+2T>C
XM_024451101.1:c.861+2T>C	XP_024306869.1:n.861+2T>C
XM_024451102.1:c.861+2T>C	XP_024306870.1:n.861+2T>C
XM_024451103.1:c.843+2T>C	XP_024306871.1:n.843+2T>C
XM_024451104.1:c.861+2T>C	XP_024306872.1:n.861+2T>C
XM_024451106.1:c.861+2T>C	XP_024306874.1:n.861+2T>C
XM_024451108.1:c.861+2T>C	XP_024306876.1:n.861+2T>C
NM_014704.4:c.735+2T>C MANE Select	NP_055519.1:n.735+2T>C