Canonical Allele Identifier: CA2665911

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 343801
• ClinVar RCV Id: RCV000339707 ; RCV001707668
• dbSNP Id: rs12635299
• ExAC: 3:150644839 T / G
• gnomAD v2: 3-150644839-T-G
• gnomAD v3: 3-150927052-T-G
• gnomAD v4: 3-150927052-T-G
• MyVariant Identifiers: chr3:g.150644839T>G (hg19) ; chr3:g.150927052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927052T>G , CM000665.2:g.150927052T>G	GRCh38
NC_000003.11:g.150644839T>G , CM000665.1:g.150644839T>G	GRCh37
NC_000003.10:g.152127529T>G	NCBI36
NG_009168.1:g.50948A>C , LRG_700:g.50948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*884A>C MANE Select	ENSP00000322280.1:n.*884A>C
ENST00000295911.6:c.343-180A>C	ENSP00000295911.2:n.343-180A>C
ENST00000327047.5:c.*884A>C	ENSP00000322280.1:n.*884A>C
ENST00000562308.5:c.104+14530A>C
ENST00000565169.1:c.162+14530A>C
ENST00000569170.5:c.162+14530A>C
NM_001195794.1:c.*884A>C , LRG_700t1:c.*884A>C	NP_001182723.1:n.*884A>C
NM_001256819.1:c.*1197A>C	NP_001243748.1:n.*1197A>C
NM_052995.2:c.343-180A>C , LRG_700t2:c.343-180A>C	NP_443721.1:n.343-180A>C
NM_174878.2:c.*884A>C	NP_777367.1:n.*884A>C
NR_046380.2:n.2064A>C
XR_924167.1:n.1895A>C
NM_001256819.2:c.*1197A>C	NP_001243748.1:n.*1197A>C
NM_174878.3:c.*884A>C MANE Select	NP_777367.1:n.*884A>C
NR_046380.3:n.1792A>C