Canonical Allele Identifier: CA4485758

Gene: CEP41

Linked Data

• ClinVar Variation Id: 261053
• ClinVar RCV Id: RCV000248227 ; RCV000384968 ; RCV001610701
• dbSNP Id: rs2287371
• ExAC: 7:130080812 T / G
• gnomAD v2: 7-130080812-T-G
• gnomAD v3: 7-130440971-T-G
• gnomAD v4: 7-130440971-T-G
• MyVariant Identifiers: chr7:g.130080812T>G (hg19) ; chr7:g.130440971T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130440971T>G , CM000669.2:g.130440971T>G	GRCh38
NC_000007.13:g.130080812T>G , CM000669.1:g.130080812T>G	GRCh37
NC_000007.12:g.129868048T>G	NCBI36
NG_032164.1:g.5240A>C
NG_032164.2:g.5240A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.-5A>C MANE Select	ENSP00000223208.4:n.-5A>C
ENST00000343969.10:c.-5A>C	ENSP00000342738.6:n.-5A>C
ENST00000469826.2:c.-5A>C	ENSP00000418712.2:n.-5A>C
ENST00000471201.6:c.-79A>C	ENSP00000417463.2:n.-79A>C
ENST00000477003.6:c.-5A>C	ENSP00000420670.2:n.-5A>C
ENST00000480206.2:c.-5A>C	ENSP00000502099.1:n.-5A>C
ENST00000484549.6:c.-5A>C	ENSP00000419078.2:n.-5A>C
ENST00000541543.6:c.24+1426A>C	ENSP00000445888.2:n.24+1426A>C
ENST00000674539.1:c.-5A>C	ENSP00000502834.1:n.-5A>C
ENST00000674630.1:c.-5A>C	ENSP00000502521.1:n.-5A>C
ENST00000675138.1:c.78+687A>C	ENSP00000501597.1:n.78+687A>C
ENST00000675168.1:c.-5A>C	ENSP00000501563.1:n.-5A>C
ENST00000675563.1:c.-550A>C	ENSP00000502483.1:n.-550A>C
ENST00000675596.1:c.-5A>C	ENSP00000501735.1:n.-5A>C
ENST00000675649.1:c.-5A>C	ENSP00000502385.1:n.-5A>C
ENST00000675721.1:c.-5A>C	ENSP00000502026.1:n.-5A>C
ENST00000675813.1:c.-5A>C	ENSP00000502785.1:n.-5A>C
ENST00000675935.1:c.-5A>C	ENSP00000501731.1:n.-5A>C
ENST00000675962.1:c.-5A>C	ENSP00000502478.1:n.-5A>C
ENST00000676115.1:c.-5A>C	ENSP00000502631.1:n.-5A>C
ENST00000676243.1:c.-5A>C	ENSP00000501717.1:n.-5A>C
ENST00000676312.1:c.-7+62A>C	ENSP00000502312.1:n.-7+62A>C
ENST00000223208.9:c.-5A>C	ENSP00000223208.4:n.-5A>C
ENST00000334451.6:n.54A>C
ENST00000343969.9:c.-5A>C	ENSP00000342738.5:n.-5A>C
ENST00000471201.5:c.-5A>C	ENSP00000417463.1:n.-5A>C
ENST00000477003.5:c.24+1426A>C	ENSP00000420670.1:n.24+1426A>C
ENST00000484549.5:c.-5A>C	ENSP00000419078.1:n.-5A>C
ENST00000489512.5:c.-5A>C	ENSP00000417815.1:n.-5A>C
ENST00000495702.5:n.59A>C
ENST00000498527.5:n.56A>C
ENST00000541543.5:c.-5A>C	ENSP00000445888.1:n.-5A>C
ENST00000616628.1:c.-5A>C	ENSP00000479252.1:n.-5A>C
NM_001257158.1:c.-5A>C	NP_001244087.1:n.-5A>C
NM_001257159.1:c.-5A>C	NP_001244088.1:n.-5A>C
NM_001257160.1:c.-5A>C	NP_001244089.1:n.-5A>C
NM_018718.2:c.-5A>C	NP_061188.1:n.-5A>C
NR_046443.1:n.240A>C
XM_011516708.1:c.78+687A>C	XP_011515010.1:n.78+687A>C
XM_011516709.1:c.-224A>C	XP_011515011.1:n.-224A>C
XM_011516712.1:c.78+687A>C	XP_011515014.1:n.78+687A>C
XM_011516709.3:c.-224A>C	XP_011515011.1:n.-224A>C
NM_018718.3:c.-5A>C MANE Select	NP_061188.1:n.-5A>C
NM_001257158.2:c.-5A>C	NP_001244087.1:n.-5A>C
NM_001257160.2:c.-5A>C	NP_001244089.1:n.-5A>C
NR_046443.2:n.46A>C
NM_001257159.2:c.-5A>C	NP_001244088.1:n.-5A>C