Canonical Allele Identifier: CA2668197386

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927857-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927857A>G , CM000665.2:g.150927857A>G	GRCh38
NC_000003.11:g.150645644A>G , CM000665.1:g.150645644A>G	GRCh37
NC_000003.10:g.152128334A>G	NCBI36
NG_009168.1:g.50143T>C , LRG_700:g.50143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*79T>C MANE Select	ENSP00000322280.1:n.*79T>C
ENST00000295911.6:c.342+208T>C	ENSP00000295911.2:n.342+208T>C
ENST00000327047.5:c.*79T>C	ENSP00000322280.1:n.*79T>C
ENST00000562308.5:c.104+13725T>C
ENST00000565169.1:c.162+13725T>C
ENST00000569170.5:c.162+13725T>C
NM_001195794.1:c.*79T>C , LRG_700t1:c.*79T>C	NP_001182723.1:n.*79T>C
NM_001256819.1:c.*392T>C	NP_001243748.1:n.*392T>C
NM_052995.2:c.342+208T>C , LRG_700t2:c.342+208T>C	NP_443721.1:n.342+208T>C
NM_174878.2:c.*79T>C	NP_777367.1:n.*79T>C
NR_046380.2:n.1259T>C
XR_924167.1:n.1090T>C
NM_001256819.2:c.*392T>C	NP_001243748.1:n.*392T>C
NM_174878.3:c.*79T>C MANE Select	NP_777367.1:n.*79T>C
NR_046380.3:n.987T>C