Canonical Allele Identifier: CA577769912

Gene: CEP41

Linked Data

• dbSNP Id: rs1554414090
• gnomAD v2: 7-130035226-T-G
• gnomAD v4: 7-130395385-T-G
• MyVariant Identifiers: chr7:g.130035226T>G (hg19) ; chr7:g.130395385T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395385T>G , CM000669.2:g.130395385T>G	GRCh38
NC_000007.13:g.130035226T>G , CM000669.1:g.130035226T>G	GRCh37
NC_000007.12:g.129822462T>G	NCBI36
NG_032164.1:g.50826A>C
NG_032164.2:g.50826A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.*3506A>C MANE Select	ENSP00000223208.4:n.*3506A>C
ENST00000541543.6:c.*3506A>C	ENSP00000445888.2:n.*3506A>C
ENST00000675649.1:c.*3506A>C	ENSP00000502385.1:n.*3506A>C
ENST00000223208.9:c.*3506A>C	ENSP00000223208.4:n.*3506A>C
ENST00000541543.5:c.*3506A>C	ENSP00000445888.1:n.*3506A>C
NM_001257158.1:c.*3506A>C	NP_001244087.1:n.*3506A>C
NM_001257159.1:c.*3506A>C	NP_001244088.1:n.*3506A>C
NM_018718.2:c.*3506A>C	NP_061188.1:n.*3506A>C
NR_046443.1:n.4796A>C
NM_018718.3:c.*3506A>C MANE Select	NP_061188.1:n.*3506A>C
NM_001257158.2:c.*3506A>C	NP_001244087.1:n.*3506A>C
NR_046443.2:n.4602A>C
NM_001257159.2:c.*3506A>C	NP_001244088.1:n.*3506A>C