Canonical Allele Identifier: CA577769894

Gene: CEP41

Linked Data

• dbSNP Id: rs577355827
• gnomAD v2: 7-130035157-T-C
• gnomAD v4: 7-130395316-T-C
• MyVariant Identifiers: chr7:g.130035157T>C (hg19) ; chr7:g.130395316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395316T>C , CM000669.2:g.130395316T>C	GRCh38
NC_000007.13:g.130035157T>C , CM000669.1:g.130035157T>C	GRCh37
NC_000007.12:g.129822393T>C	NCBI36
NG_032164.1:g.50895A>G
NG_032164.2:g.50895A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223208.10:c.*3575A>G MANE Select	ENSP00000223208.4:n.*3575A>G
ENST00000541543.6:c.*3575A>G	ENSP00000445888.2:n.*3575A>G
ENST00000675649.1:c.*3575A>G	ENSP00000502385.1:n.*3575A>G
ENST00000223208.9:c.*3575A>G	ENSP00000223208.4:n.*3575A>G
ENST00000541543.5:c.*3575A>G	ENSP00000445888.1:n.*3575A>G
NM_001257158.1:c.*3575A>G	NP_001244087.1:n.*3575A>G
NM_001257159.1:c.*3575A>G	NP_001244088.1:n.*3575A>G
NM_018718.2:c.*3575A>G	NP_061188.1:n.*3575A>G
NR_046443.1:n.4865A>G
NM_018718.3:c.*3575A>G MANE Select	NP_061188.1:n.*3575A>G
NM_001257158.2:c.*3575A>G	NP_001244087.1:n.*3575A>G
NR_046443.2:n.4671A>G
NM_001257159.2:c.*3575A>G	NP_001244088.1:n.*3575A>G