Canonical Allele Identifier: CA1410888456

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2851680
• ClinVar RCV Id: RCV003691256
• dbSNP Id: rs1576631515
• gnomAD v3: 3-150941562-A-C
• gnomAD v4: 3-150941562-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941562A>C , CM000665.2:g.150941562A>C	GRCh38
NC_000003.11:g.150659349A>C , CM000665.1:g.150659349A>C	GRCh37
NC_000003.10:g.152142039A>C	NCBI36
NG_009168.1:g.36438T>G , LRG_700:g.36438T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+20T>G MANE Select	ENSP00000322280.1:n.433+20T>G
ENST00000468836.2:c.581+20T>G	ENSP00000419892.2:n.581+20T>G
ENST00000644099.1:c.425+20T>G	ENSP00000494762.1:n.425+20T>G
ENST00000295911.6:c.205+20T>G	ENSP00000295911.2:n.205+20T>G
ENST00000327047.5:c.433+20T>G	ENSP00000322280.1:n.433+20T>G
ENST00000328863.8:c.433+20T>G	ENSP00000329158.4:n.433+20T>G
ENST00000468836.1:c.205+20T>G	ENSP00000419892.1:n.205+20T>G
ENST00000472224.1:n.459T>G
ENST00000485607.1:c.97+20T>G	ENSP00000419244.1:n.97+20T>G
ENST00000562308.5:c.104+20T>G
ENST00000565169.1:c.162+20T>G
ENST00000569170.5:c.162+20T>G
NM_001195794.1:c.433+20T>G , LRG_700t1:c.433+20T>G	NP_001182723.1:n.433+20T>G
NM_001256819.1:c.*47+20T>G	NP_001243748.1:n.*47+20T>G
NM_052995.2:c.205+20T>G , LRG_700t2:c.205+20T>G	NP_443721.1:n.205+20T>G
NM_174878.2:c.433+20T>G	NP_777367.1:n.433+20T>G
NR_046380.2:n.875+20T>G
XR_924167.1:n.745+20T>G
NM_001256819.2:c.*47+20T>G	NP_001243748.1:n.*47+20T>G
NM_174878.3:c.433+20T>G MANE Select	NP_777367.1:n.433+20T>G
NR_046380.3:n.603+20T>G