Canonical Allele Identifier: CA2666093

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2175998
• ClinVar RCV Id: RCV002602501
• dbSNP Id: rs754794211
• ExAC: 3:150659507 C / T
• gnomAD v2: 3-150659507-C-T
• gnomAD v4: 3-150941720-C-T
• MyVariant Identifiers: chr3:g.150659507C>T (hg19) ; chr3:g.150941720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941720C>T , CM000665.2:g.150941720C>T	GRCh38
NC_000003.11:g.150659507C>T , CM000665.1:g.150659507C>T	GRCh37
NC_000003.10:g.152142197C>T	NCBI36
NG_009168.1:g.36280G>A , LRG_700:g.36280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.295G>A MANE Select	ENSP00000322280.1:p.Val99Ile
ENST00000468836.2:c.443G>A	ENSP00000419892.2:p.Arg148His
ENST00000644099.1:c.287G>A	ENSP00000494762.1:n.287G>A
ENST00000295911.6:c.67G>A	ENSP00000295911.2:p.Val23Ile
ENST00000327047.5:c.295G>A	ENSP00000322280.1:p.Val99Ile
ENST00000328863.8:c.295G>A	ENSP00000329158.4:p.Val99Ile
ENST00000468836.1:c.67G>A	ENSP00000419892.1:p.Val23Ile
ENST00000472224.1:n.301G>A
ENST00000485607.1:c.-42G>A	ENSP00000419244.1:n.-42G>A
ENST00000565169.1:c.24G>A
ENST00000569170.5:c.24G>A
NM_001195794.1:c.295G>A , LRG_700t1:c.295G>A	NP_001182723.1:p.Val99Ile
NM_001256819.1:c.467G>A	NP_001243748.1:p.Arg156His
NM_052995.2:c.67G>A , LRG_700t2:c.67G>A	NP_443721.1:p.Val23Ile
NM_174878.2:c.295G>A	NP_777367.1:p.Val99Ile
NR_046380.2:n.737G>A
XR_924167.1:n.607G>A
NM_001256819.2:c.467G>A	NP_001243748.1:p.Arg156His
NM_174878.3:c.295G>A MANE Select	NP_777367.1:p.Val99Ile
NR_046380.3:n.465G>A