Canonical Allele Identifier: CA85691585

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 991769
• ClinVar RCV Id: RCV001280037 ; RCV002486066 ; RCV002542940
• dbSNP Id: rs904836940
• gnomAD v2: 3-150659396-C-T
• gnomAD v3: 3-150941609-C-T
• gnomAD v4: 3-150941609-C-T
• MyVariant Identifiers: chr3:g.150659396C>T (hg19) ; chr3:g.150941609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941609C>T , CM000665.2:g.150941609C>T	GRCh38
NC_000003.11:g.150659396C>T , CM000665.1:g.150659396C>T	GRCh37
NC_000003.10:g.152142086C>T	NCBI36
NG_009168.1:g.36391G>A , LRG_700:g.36391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.406G>A MANE Select	ENSP00000322280.1:p.Gly136Arg
ENST00000468836.2:c.554G>A	ENSP00000419892.2:n.554G>A
ENST00000644099.1:c.398G>A	ENSP00000494762.1:n.398G>A
ENST00000295911.6:c.178G>A	ENSP00000295911.2:p.Gly60Arg
ENST00000327047.5:c.406G>A	ENSP00000322280.1:p.Gly136Arg
ENST00000328863.8:c.406G>A	ENSP00000329158.4:p.Gly136Arg
ENST00000468836.1:c.178G>A	ENSP00000419892.1:p.Gly60Arg
ENST00000472224.1:n.412G>A
ENST00000485607.1:c.70G>A	ENSP00000419244.1:p.Gly24Arg
ENST00000562308.5:c.77G>A
ENST00000565169.1:c.135G>A
ENST00000569170.5:c.135G>A
NM_001195794.1:c.406G>A , LRG_700t1:c.406G>A	NP_001182723.1:p.Gly136Arg
NM_001256819.1:c.*20G>A	NP_001243748.1:n.*20G>A
NM_052995.2:c.178G>A , LRG_700t2:c.178G>A	NP_443721.1:p.Gly60Arg
NM_174878.2:c.406G>A	NP_777367.1:p.Gly136Arg
NR_046380.2:n.848G>A
XR_924167.1:n.718G>A
NM_001256819.2:c.*20G>A	NP_001243748.1:n.*20G>A
NM_174878.3:c.406G>A MANE Select	NP_777367.1:p.Gly136Arg
NR_046380.3:n.576G>A