Canonical Allele Identifier: CA2665862

Gene: CLRN1

Linked Data

• dbSNP Id: rs756377014
• ExAC: 3:150644494 T / G
• gnomAD v2: 3-150644494-T-G
• gnomAD v4: 3-150926707-T-G
• MyVariant Identifiers: chr3:g.150644494T>G (hg19) ; chr3:g.150926707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926707T>G , CM000665.2:g.150926707T>G	GRCh38
NC_000003.11:g.150644494T>G , CM000665.1:g.150644494T>G	GRCh37
NC_000003.10:g.152127184T>G	NCBI36
NG_009168.1:g.51293A>C , LRG_700:g.51293A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1229A>C MANE Select	ENSP00000322280.1:n.*1229A>C
ENST00000295911.6:c.*145A>C	ENSP00000295911.2:n.*145A>C
ENST00000327047.5:c.*1229A>C	ENSP00000322280.1:n.*1229A>C
ENST00000562308.5:c.104+14875A>C
ENST00000565169.1:c.162+14875A>C
ENST00000569170.5:c.162+14875A>C
NM_001195794.1:c.*1229A>C , LRG_700t1:c.*1229A>C	NP_001182723.1:n.*1229A>C
NM_001256819.1:c.*1542A>C	NP_001243748.1:n.*1542A>C
NM_052995.2:c.*145A>C , LRG_700t2:c.*145A>C	NP_443721.1:n.*145A>C
NM_174878.2:c.*1229A>C	NP_777367.1:n.*1229A>C
NR_046380.2:n.2409A>C
XR_924167.1:n.2240A>C
NM_001256819.2:c.*1542A>C	NP_001243748.1:n.*1542A>C
NM_174878.3:c.*1229A>C MANE Select	NP_777367.1:n.*1229A>C
NR_046380.3:n.2137A>C