Canonical Allele Identifier: CA4485165
Gene: CEP41 HGNC NCBI

Linked Data

ClinVar Variation Id: 910971
ClinVar RCV Id: RCV001163168
dbSNP Id: rs376434190
ExAC: 7:130035191 C / T
gnomAD v2: 7-130035191-C-T
gnomAD v3: 7-130395350-C-T
gnomAD v4: 7-130395350-C-T
MyVariant Identifiers: chr7:g.130035191C>T (hg19) chr7:g.130035191_130035192delinsTG (hg19) chr7:g.130395350C>T (hg38) chr7:g.130395350_130395351delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130395350C>T , CM000669.2:g.130395350C>T GRCh38
NC_000007.13:g.130035191C>T , CM000669.1:g.130035191C>T GRCh37
NC_000007.12:g.129822427C>T NCBI36
NG_032164.1:g.50861G>A
NG_032164.2:g.50861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223208.10:c.*3541G>A MANE Select ENSP00000223208.4:n.*3541G>A
ENST00000541543.6:c.*3541G>A ENSP00000445888.2:n.*3541G>A
ENST00000675649.1:c.*3541G>A ENSP00000502385.1:n.*3541G>A
ENST00000223208.9:c.*3541G>A ENSP00000223208.4:n.*3541G>A
ENST00000541543.5:c.*3541G>A ENSP00000445888.1:n.*3541G>A
NM_001257158.1:c.*3541G>A NP_001244087.1:n.*3541G>A
NM_001257159.1:c.*3541G>A NP_001244088.1:n.*3541G>A
NM_018718.2:c.*3541G>A NP_061188.1:n.*3541G>A
NR_046443.1:n.4831G>A
NM_018718.3:c.*3541G>A MANE Select NP_061188.1:n.*3541G>A
NM_001257158.2:c.*3541G>A NP_001244087.1:n.*3541G>A
NR_046443.2:n.4637G>A
NM_001257159.2:c.*3541G>A NP_001244088.1:n.*3541G>A
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