Canonical Allele Identifier: CA2665975

Gene: CLRN1

Linked Data

• dbSNP Id: rs764599499
• ExAC: 3:150645663 A / G
• gnomAD v2: 3-150645663-A-G
• gnomAD v4: 3-150927876-A-G
• MyVariant Identifiers: chr3:g.150645663A>G (hg19) ; chr3:g.150927876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927876A>G , CM000665.2:g.150927876A>G	GRCh38
NC_000003.11:g.150645663A>G , CM000665.1:g.150645663A>G	GRCh37
NC_000003.10:g.152128353A>G	NCBI36
NG_009168.1:g.50124T>C , LRG_700:g.50124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*60T>C MANE Select	ENSP00000322280.1:n.*60T>C
ENST00000295911.6:c.342+189T>C	ENSP00000295911.2:n.342+189T>C
ENST00000327047.5:c.*60T>C	ENSP00000322280.1:n.*60T>C
ENST00000562308.5:c.104+13706T>C
ENST00000565169.1:c.162+13706T>C
ENST00000569170.5:c.162+13706T>C
NM_001195794.1:c.*60T>C , LRG_700t1:c.*60T>C	NP_001182723.1:n.*60T>C
NM_001256819.1:c.*373T>C	NP_001243748.1:n.*373T>C
NM_052995.2:c.342+189T>C , LRG_700t2:c.342+189T>C	NP_443721.1:n.342+189T>C
NM_174878.2:c.*60T>C	NP_777367.1:n.*60T>C
NR_046380.2:n.1240T>C
XR_924167.1:n.1071T>C
NM_001256819.2:c.*373T>C	NP_001243748.1:n.*373T>C
NM_174878.3:c.*60T>C MANE Select	NP_777367.1:n.*60T>C
NR_046380.3:n.968T>C