Canonical Allele Identifier: CA2684908639

Gene: CEP41

Linked Data

• gnomAD v4: 7-130395213-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395213C>G , CM000669.2:g.130395213C>G	GRCh38
NC_000007.13:g.130035054C>G , CM000669.1:g.130035054C>G	GRCh37
NC_000007.12:g.129822290C>G	NCBI36
NG_032164.1:g.50998G>C
NG_032164.2:g.50998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.*3678G>C MANE Select	ENSP00000223208.4:n.*3678G>C
ENST00000541543.6:c.*3678G>C	ENSP00000445888.2:n.*3678G>C
ENST00000675649.1:c.*3678G>C	ENSP00000502385.1:n.*3678G>C
ENST00000223208.9:c.*3678G>C	ENSP00000223208.4:n.*3678G>C
ENST00000541543.5:c.*3678G>C	ENSP00000445888.1:n.*3678G>C
NM_001257158.1:c.*3678G>C	NP_001244087.1:n.*3678G>C
NM_001257159.1:c.*3678G>C	NP_001244088.1:n.*3678G>C
NM_018718.2:c.*3678G>C	NP_061188.1:n.*3678G>C
NR_046443.1:n.4968G>C
NM_018718.3:c.*3678G>C MANE Select	NP_061188.1:n.*3678G>C
NM_001257158.2:c.*3678G>C	NP_001244087.1:n.*3678G>C
NR_046443.2:n.4774G>C
NM_001257159.2:c.*3678G>C	NP_001244088.1:n.*3678G>C