Canonical Allele Identifier: CA1410883139

Gene: CLRN1

Linked Data

• dbSNP Id: rs1712903517
• gnomAD v4: 3-150927868-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927868A>C , CM000665.2:g.150927868A>C	GRCh38
NC_000003.11:g.150645655A>C , CM000665.1:g.150645655A>C	GRCh37
NC_000003.10:g.152128345A>C	NCBI36
NG_009168.1:g.50132T>G , LRG_700:g.50132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*68T>G MANE Select	ENSP00000322280.1:n.*68T>G
ENST00000295911.6:c.342+197T>G	ENSP00000295911.2:n.342+197T>G
ENST00000327047.5:c.*68T>G	ENSP00000322280.1:n.*68T>G
ENST00000562308.5:c.104+13714T>G
ENST00000565169.1:c.162+13714T>G
ENST00000569170.5:c.162+13714T>G
NM_001195794.1:c.*68T>G , LRG_700t1:c.*68T>G	NP_001182723.1:n.*68T>G
NM_001256819.1:c.*381T>G	NP_001243748.1:n.*381T>G
NM_052995.2:c.342+197T>G , LRG_700t2:c.342+197T>G	NP_443721.1:n.342+197T>G
NM_174878.2:c.*68T>G	NP_777367.1:n.*68T>G
NR_046380.2:n.1248T>G
XR_924167.1:n.1079T>G
NM_001256819.2:c.*381T>G	NP_001243748.1:n.*381T>G
NM_174878.3:c.*68T>G MANE Select	NP_777367.1:n.*68T>G
NR_046380.3:n.976T>G