Canonical Allele Identifier: CA2668196878

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926706-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926706C>T , CM000665.2:g.150926706C>T	GRCh38
NC_000003.11:g.150644493C>T , CM000665.1:g.150644493C>T	GRCh37
NC_000003.10:g.152127183C>T	NCBI36
NG_009168.1:g.51294G>A , LRG_700:g.51294G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1230G>A MANE Select	ENSP00000322280.1:n.*1230G>A
ENST00000295911.6:c.*146G>A	ENSP00000295911.2:n.*146G>A
ENST00000327047.5:c.*1230G>A	ENSP00000322280.1:n.*1230G>A
ENST00000562308.5:c.104+14876G>A
ENST00000565169.1:c.162+14876G>A
ENST00000569170.5:c.162+14876G>A
NM_001195794.1:c.*1230G>A , LRG_700t1:c.*1230G>A	NP_001182723.1:n.*1230G>A
NM_001256819.1:c.*1543G>A	NP_001243748.1:n.*1543G>A
NM_052995.2:c.*146G>A , LRG_700t2:c.*146G>A	NP_443721.1:n.*146G>A
NM_174878.2:c.*1230G>A	NP_777367.1:n.*1230G>A
NR_046380.2:n.2410G>A
XR_924167.1:n.2241G>A
NM_001256819.2:c.*1543G>A	NP_001243748.1:n.*1543G>A
NM_174878.3:c.*1230G>A MANE Select	NP_777367.1:n.*1230G>A
NR_046380.3:n.2138G>A