Canonical Allele Identifier: CA2684908699

Gene: CEP41

Linked Data

• gnomAD v4: 7-130395287-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395287C>A , CM000669.2:g.130395287C>A	GRCh38
NC_000007.13:g.130035128C>A , CM000669.1:g.130035128C>A	GRCh37
NC_000007.12:g.129822364C>A	NCBI36
NG_032164.1:g.50924G>T
NG_032164.2:g.50924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.*3604G>T MANE Select	ENSP00000223208.4:n.*3604G>T
ENST00000541543.6:c.*3604G>T	ENSP00000445888.2:n.*3604G>T
ENST00000675649.1:c.*3604G>T	ENSP00000502385.1:n.*3604G>T
ENST00000223208.9:c.*3604G>T	ENSP00000223208.4:n.*3604G>T
ENST00000541543.5:c.*3604G>T	ENSP00000445888.1:n.*3604G>T
NM_001257158.1:c.*3604G>T	NP_001244087.1:n.*3604G>T
NM_001257159.1:c.*3604G>T	NP_001244088.1:n.*3604G>T
NM_018718.2:c.*3604G>T	NP_061188.1:n.*3604G>T
NR_046443.1:n.4894G>T
NM_018718.3:c.*3604G>T MANE Select	NP_061188.1:n.*3604G>T
NM_001257158.2:c.*3604G>T	NP_001244087.1:n.*3604G>T
NR_046443.2:n.4700G>T
NM_001257159.2:c.*3604G>T	NP_001244088.1:n.*3604G>T