Canonical Allele Identifier: CA2666195

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 501869
• ClinVar RCV Id: RCV000598081 ; RCV001146711 ; RCV001275854
• dbSNP Id: rs140094683
• ExAC: 3:150690313 C / T
• gnomAD v2: 3-150690313-C-T
• gnomAD v3: 3-150972526-C-T
• gnomAD v4: 3-150972526-C-T
• MyVariant Identifiers: chr3:g.150690313C>T (hg19) ; chr3:g.150972526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972526C>T , CM000665.2:g.150972526C>T	GRCh38
NC_000003.11:g.150690313C>T , CM000665.1:g.150690313C>T	GRCh37
NC_000003.10:g.152173003C>T	NCBI36
NG_009168.1:g.5474G>A , LRG_700:g.5474G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.183G>A MANE Select	ENSP00000322280.1:p.Met61Ile
ENST00000468836.2:c.159G>A	ENSP00000419892.2:p.Met53Ile
ENST00000644099.1:c.24G>A	ENSP00000494762.1:p.Met8Ile
ENST00000645441.1:c.25G>A
ENST00000327047.5:c.183G>A	ENSP00000322280.1:p.Met61Ile
ENST00000328863.8:c.183G>A	ENSP00000329158.4:p.Met61Ile
ENST00000468836.1:c.-218G>A	ENSP00000419892.1:n.-218G>A
ENST00000472224.1:n.189G>A
NM_001195794.1:c.183G>A , LRG_700t1:c.183G>A	NP_001182723.1:p.Met61Ile
NM_001256819.1:c.183G>A	NP_001243748.1:p.Met61Ile
NM_174878.2:c.183G>A	NP_777367.1:p.Met61Ile
NR_046380.2:n.474G>A
XR_924167.1:n.495G>A
NM_001256819.2:c.183G>A	NP_001243748.1:p.Met61Ile
NM_174878.3:c.183G>A MANE Select	NP_777367.1:p.Met61Ile
NR_046380.3:n.202G>A