Canonical Allele Identifier: CA577769895

Gene: CEP41

Linked Data

• dbSNP Id: rs1554414044
• gnomAD v2: 7-130035165-C-T
• gnomAD v3: 7-130395324-C-T
• gnomAD v4: 7-130395324-C-T
• MyVariant Identifiers: chr7:g.130035165C>T (hg19) ; chr7:g.130395324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395324C>T , CM000669.2:g.130395324C>T	GRCh38
NC_000007.13:g.130035165C>T , CM000669.1:g.130035165C>T	GRCh37
NC_000007.12:g.129822401C>T	NCBI36
NG_032164.1:g.50887G>A
NG_032164.2:g.50887G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223208.10:c.*3567G>A MANE Select	ENSP00000223208.4:n.*3567G>A
ENST00000541543.6:c.*3567G>A	ENSP00000445888.2:n.*3567G>A
ENST00000675649.1:c.*3567G>A	ENSP00000502385.1:n.*3567G>A
ENST00000223208.9:c.*3567G>A	ENSP00000223208.4:n.*3567G>A
ENST00000541543.5:c.*3567G>A	ENSP00000445888.1:n.*3567G>A
NM_001257158.1:c.*3567G>A	NP_001244087.1:n.*3567G>A
NM_001257159.1:c.*3567G>A	NP_001244088.1:n.*3567G>A
NM_018718.2:c.*3567G>A	NP_061188.1:n.*3567G>A
NR_046443.1:n.4857G>A
NM_018718.3:c.*3567G>A MANE Select	NP_061188.1:n.*3567G>A
NM_001257158.2:c.*3567G>A	NP_001244087.1:n.*3567G>A
NR_046443.2:n.4663G>A
NM_001257159.2:c.*3567G>A	NP_001244088.1:n.*3567G>A