Canonical Allele Identifier: CA2668196875

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926700-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926700G>T , CM000665.2:g.150926700G>T	GRCh38
NC_000003.11:g.150644487G>T , CM000665.1:g.150644487G>T	GRCh37
NC_000003.10:g.152127177G>T	NCBI36
NG_009168.1:g.51300C>A , LRG_700:g.51300C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1236C>A MANE Select	ENSP00000322280.1:n.*1236C>A
ENST00000295911.6:c.*152C>A	ENSP00000295911.2:n.*152C>A
ENST00000327047.5:c.*1236C>A	ENSP00000322280.1:n.*1236C>A
ENST00000562308.5:c.104+14882C>A
ENST00000565169.1:c.162+14882C>A
ENST00000569170.5:c.162+14882C>A
NM_001195794.1:c.*1236C>A , LRG_700t1:c.*1236C>A	NP_001182723.1:n.*1236C>A
NM_001256819.1:c.*1549C>A	NP_001243748.1:n.*1549C>A
NM_052995.2:c.*152C>A , LRG_700t2:c.*152C>A	NP_443721.1:n.*152C>A
NM_174878.2:c.*1236C>A	NP_777367.1:n.*1236C>A
NR_046380.2:n.2416C>A
XR_924167.1:n.2247C>A
NM_001256819.2:c.*1549C>A	NP_001243748.1:n.*1549C>A
NM_174878.3:c.*1236C>A MANE Select	NP_777367.1:n.*1236C>A
NR_046380.3:n.2144C>A