Canonical Allele Identifier: CA2668196904

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926773-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926773T>G , CM000665.2:g.150926773T>G	GRCh38
NC_000003.11:g.150644560T>G , CM000665.1:g.150644560T>G	GRCh37
NC_000003.10:g.152127250T>G	NCBI36
NG_009168.1:g.51227A>C , LRG_700:g.51227A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1163A>C MANE Select	ENSP00000322280.1:n.*1163A>C
ENST00000295911.6:c.*79A>C	ENSP00000295911.2:n.*79A>C
ENST00000327047.5:c.*1163A>C	ENSP00000322280.1:n.*1163A>C
ENST00000562308.5:c.104+14809A>C
ENST00000565169.1:c.162+14809A>C
ENST00000569170.5:c.162+14809A>C
NM_001195794.1:c.*1163A>C , LRG_700t1:c.*1163A>C	NP_001182723.1:n.*1163A>C
NM_001256819.1:c.*1476A>C	NP_001243748.1:n.*1476A>C
NM_052995.2:c.*79A>C , LRG_700t2:c.*79A>C	NP_443721.1:n.*79A>C
NM_174878.2:c.*1163A>C	NP_777367.1:n.*1163A>C
NR_046380.2:n.2343A>C
XR_924167.1:n.2174A>C
NM_001256819.2:c.*1476A>C	NP_001243748.1:n.*1476A>C
NM_174878.3:c.*1163A>C MANE Select	NP_777367.1:n.*1163A>C
NR_046380.3:n.2071A>C