Canonical Allele Identifier: CA546974230

Gene: CLRN1

Linked Data

• dbSNP Id: rs1258412240
• gnomAD v2: 3-150644458-T-C
• gnomAD v4: 3-150926671-T-C
• MyVariant Identifiers: chr3:g.150644458T>C (hg19) ; chr3:g.150926671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926671T>C , CM000665.2:g.150926671T>C	GRCh38
NC_000003.11:g.150644458T>C , CM000665.1:g.150644458T>C	GRCh37
NC_000003.10:g.152127148T>C	NCBI36
NG_009168.1:g.51329A>G , LRG_700:g.51329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*1265A>G MANE Select	ENSP00000322280.1:n.*1265A>G
ENST00000295911.6:c.*181A>G	ENSP00000295911.2:n.*181A>G
ENST00000327047.5:c.*1265A>G	ENSP00000322280.1:n.*1265A>G
ENST00000562308.5:c.104+14911A>G
ENST00000565169.1:c.162+14911A>G
ENST00000569170.5:c.162+14911A>G
NM_001195794.1:c.*1265A>G , LRG_700t1:c.*1265A>G	NP_001182723.1:n.*1265A>G
NM_001256819.1:c.*1578A>G	NP_001243748.1:n.*1578A>G
NM_052995.2:c.*181A>G , LRG_700t2:c.*181A>G	NP_443721.1:n.*181A>G
NM_174878.2:c.*1265A>G	NP_777367.1:n.*1265A>G
NR_046380.2:n.2445A>G
XR_924167.1:n.2276A>G
NM_001256819.2:c.*1578A>G	NP_001243748.1:n.*1578A>G
NM_174878.3:c.*1265A>G MANE Select	NP_777367.1:n.*1265A>G
NR_046380.3:n.2173A>G