Canonical Allele Identifier: CA354954938

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 3027583
• ClinVar RCV Id: RCV003890837
• dbSNP Id: rs1190409202
• gnomAD v3: 3-150940496-T-C
• gnomAD v4: 3-150940496-T-C
• MyVariant Identifiers: chr3:g.150658283T>C (hg19) ; chr3:g.150940496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940496T>C , CM000665.2:g.150940496T>C	GRCh38
NC_000003.11:g.150658283T>C , CM000665.1:g.150658283T>C	GRCh37
NC_000003.10:g.152140973T>C	NCBI36
NG_009168.1:g.37504A>G , LRG_700:g.37504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1086A>G MANE Select	ENSP00000322280.1:n.433+1086A>G
ENST00000468836.2:c.581+1086A>G	ENSP00000419892.2:n.581+1086A>G
ENST00000644099.1:c.449A>G	ENSP00000494762.1:n.449A>G
ENST00000295911.6:c.205+1086A>G	ENSP00000295911.2:n.205+1086A>G
ENST00000327047.5:c.433+1086A>G	ENSP00000322280.1:n.433+1086A>G
ENST00000328863.8:c.457A>G	ENSP00000329158.4:p.Arg153Gly
ENST00000468836.1:c.205+1086A>G	ENSP00000419892.1:n.205+1086A>G
ENST00000485607.1:c.97+1086A>G	ENSP00000419244.1:n.97+1086A>G
ENST00000562308.5:c.104+1086A>G
ENST00000565169.1:c.162+1086A>G
ENST00000569170.5:c.162+1086A>G
NM_001195794.1:c.457A>G , LRG_700t1:c.457A>G	NP_001182723.1:p.Arg153Gly
NM_001256819.1:c.*47+1086A>G	NP_001243748.1:n.*47+1086A>G
NM_052995.2:c.205+1086A>G , LRG_700t2:c.205+1086A>G	NP_443721.1:n.205+1086A>G
NM_174878.2:c.433+1086A>G	NP_777367.1:n.433+1086A>G
NR_046380.2:n.899A>G
XR_924167.1:n.745+1086A>G
NM_001256819.2:c.*47+1086A>G	NP_001243748.1:n.*47+1086A>G
NM_174878.3:c.433+1086A>G MANE Select	NP_777367.1:n.433+1086A>G
NR_046380.3:n.627A>G