Canonical Allele Identifier: CA85679416

Gene: CLRN1

Linked Data

• dbSNP Id: rs912235569
• gnomAD v2: 3-150644501-C-T
• gnomAD v3: 3-150926714-C-T
• gnomAD v4: 3-150926714-C-T
• MyVariant Identifiers: chr3:g.150644501C>T (hg19) ; chr3:g.150926714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926714C>T , CM000665.2:g.150926714C>T	GRCh38
NC_000003.11:g.150644501C>T , CM000665.1:g.150644501C>T	GRCh37
NC_000003.10:g.152127191C>T	NCBI36
NG_009168.1:g.51286G>A , LRG_700:g.51286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1222G>A MANE Select	ENSP00000322280.1:n.*1222G>A
ENST00000295911.6:c.*138G>A	ENSP00000295911.2:n.*138G>A
ENST00000327047.5:c.*1222G>A	ENSP00000322280.1:n.*1222G>A
ENST00000562308.5:c.104+14868G>A
ENST00000565169.1:c.162+14868G>A
ENST00000569170.5:c.162+14868G>A
NM_001195794.1:c.*1222G>A , LRG_700t1:c.*1222G>A	NP_001182723.1:n.*1222G>A
NM_001256819.1:c.*1535G>A	NP_001243748.1:n.*1535G>A
NM_052995.2:c.*138G>A , LRG_700t2:c.*138G>A	NP_443721.1:n.*138G>A
NM_174878.2:c.*1222G>A	NP_777367.1:n.*1222G>A
NR_046380.2:n.2402G>A
XR_924167.1:n.2233G>A
NM_001256819.2:c.*1535G>A	NP_001243748.1:n.*1535G>A
NM_174878.3:c.*1222G>A MANE Select	NP_777367.1:n.*1222G>A
NR_046380.3:n.2130G>A