Canonical Allele Identifier: CA2666053

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 228521
• ClinVar RCV Id: RCV000219342 ; RCV000664764 ; RCV000766844 ; RCV001197097 ; RCV001375114
• dbSNP Id: rs567709615
• ExAC: 3:150658308 T / A
• gnomAD v2: 3-150658308-T-A
• gnomAD v3: 3-150940521-T-A
• gnomAD v4: 3-150940521-T-A
• MyVariant Identifiers: chr3:g.150658308T>A (hg19) ; chr3:g.150940521T>A (hg38)
• PubMed: PMID:20717163

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940521T>A , CM000665.2:g.150940521T>A	GRCh38
NC_000003.11:g.150658308T>A , CM000665.1:g.150658308T>A	GRCh37
NC_000003.10:g.152140998T>A	NCBI36
NG_009168.1:g.37479A>T , LRG_700:g.37479A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.433+1061A>T MANE Select	ENSP00000322280.1:n.433+1061A>T
ENST00000468836.2:c.581+1061A>T	ENSP00000419892.2:n.581+1061A>T
ENST00000644099.1:c.426-2A>T	ENSP00000494762.1:n.426-2A>T
ENST00000295911.6:c.205+1061A>T	ENSP00000295911.2:n.205+1061A>T
ENST00000327047.5:c.433+1061A>T	ENSP00000322280.1:n.433+1061A>T
ENST00000328863.8:c.434-2A>T	ENSP00000329158.4:n.434-2A>T
ENST00000468836.1:c.205+1061A>T	ENSP00000419892.1:n.205+1061A>T
ENST00000485607.1:c.97+1061A>T	ENSP00000419244.1:n.97+1061A>T
ENST00000562308.5:c.104+1061A>T
ENST00000565169.1:c.162+1061A>T
ENST00000569170.5:c.162+1061A>T
NM_001195794.1:c.434-2A>T , LRG_700t1:c.434-2A>T	NP_001182723.1:n.434-2A>T
NM_001256819.1:c.*47+1061A>T	NP_001243748.1:n.*47+1061A>T
NM_052995.2:c.205+1061A>T , LRG_700t2:c.205+1061A>T	NP_443721.1:n.205+1061A>T
NM_174878.2:c.433+1061A>T	NP_777367.1:n.433+1061A>T
NR_046380.2:n.876-2A>T
XR_924167.1:n.745+1061A>T
NM_001256819.2:c.*47+1061A>T	NP_001243748.1:n.*47+1061A>T
NM_174878.3:c.433+1061A>T MANE Select	NP_777367.1:n.433+1061A>T
NR_046380.3:n.604-2A>T