Canonical Allele Identifier: CA2666018

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2159480
• ClinVar RCV Id: RCV003072836 ; RCV003072837
• dbSNP Id: rs377547041
• ExAC: 3:150645883 G / A
• gnomAD v2: 3-150645883-G-A
• gnomAD v3: 3-150928096-G-A
• gnomAD v4: 3-150928096-G-A
• MyVariant Identifiers: chr3:g.150645883G>A (hg19) ; chr3:g.150928096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928096G>A , CM000665.2:g.150928096G>A	GRCh38
NC_000003.11:g.150645883G>A , CM000665.1:g.150645883G>A	GRCh37
NC_000003.10:g.152128573G>A	NCBI36
NG_009168.1:g.49904C>T , LRG_700:g.49904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.539C>T MANE Select	ENSP00000322280.1:p.Thr180Met
ENST00000468836.2:c.687C>T	ENSP00000419892.2:n.687C>T
ENST00000295911.6:c.311C>T	ENSP00000295911.2:p.Thr104Met
ENST00000327047.5:c.539C>T	ENSP00000322280.1:p.Thr180Met
ENST00000328863.8:c.578C>T	ENSP00000329158.4:p.Thr193Met
ENST00000468836.1:c.311C>T	ENSP00000419892.1:p.Thr104Met
ENST00000562308.5:c.104+13486C>T
ENST00000565169.1:c.162+13486C>T
ENST00000569170.5:c.162+13486C>T
NM_001195794.1:c.578C>T , LRG_700t1:c.578C>T	NP_001182723.1:p.Thr193Met
NM_001256819.1:c.*153C>T	NP_001243748.1:n.*153C>T
NM_052995.2:c.311C>T , LRG_700t2:c.311C>T	NP_443721.1:p.Thr104Met
NM_174878.2:c.539C>T	NP_777367.1:p.Thr180Met
NR_046380.2:n.1020C>T
XR_924167.1:n.851C>T
NM_001256819.2:c.*153C>T	NP_001243748.1:n.*153C>T
NM_174878.3:c.539C>T MANE Select	NP_777367.1:p.Thr180Met
NR_046380.3:n.748C>T