Canonical Allele Identifier: CA85680817

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1511955
• ClinVar RCV Id: RCV002020671
• dbSNP Id: rs911896298
• gnomAD v2: 3-150645838-C-T
• gnomAD v3: 3-150928051-C-T
• gnomAD v4: 3-150928051-C-T
• MyVariant Identifiers: chr3:g.150645838C>T (hg19) ; chr3:g.150928051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928051C>T , CM000665.2:g.150928051C>T	GRCh38
NC_000003.11:g.150645838C>T , CM000665.1:g.150645838C>T	GRCh37
NC_000003.10:g.152128528C>T	NCBI36
NG_009168.1:g.49949G>A , LRG_700:g.49949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.584G>A MANE Select	ENSP00000322280.1:p.Cys195Tyr
ENST00000295911.6:c.342+14G>A	ENSP00000295911.2:n.342+14G>A
ENST00000327047.5:c.584G>A	ENSP00000322280.1:p.Cys195Tyr
ENST00000328863.8:c.623G>A	ENSP00000329158.4:p.Cys208Tyr
ENST00000562308.5:c.104+13531G>A
ENST00000565169.1:c.162+13531G>A
ENST00000569170.5:c.162+13531G>A
NM_001195794.1:c.623G>A , LRG_700t1:c.623G>A	NP_001182723.1:p.Cys208Tyr
NM_001256819.1:c.*198G>A	NP_001243748.1:n.*198G>A
NM_052995.2:c.342+14G>A , LRG_700t2:c.342+14G>A	NP_443721.1:n.342+14G>A
NM_174878.2:c.584G>A	NP_777367.1:p.Cys195Tyr
NR_046380.2:n.1065G>A
XR_924167.1:n.896G>A
NM_001256819.2:c.*198G>A	NP_001243748.1:n.*198G>A
NM_174878.3:c.584G>A MANE Select	NP_777367.1:p.Cys195Tyr
NR_046380.3:n.793G>A