Canonical Allele Identifier: CA2668197380

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927847-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927847G>A , CM000665.2:g.150927847G>A	GRCh38
NC_000003.11:g.150645634G>A , CM000665.1:g.150645634G>A	GRCh37
NC_000003.10:g.152128324G>A	NCBI36
NG_009168.1:g.50153C>T , LRG_700:g.50153C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*89C>T MANE Select	ENSP00000322280.1:n.*89C>T
ENST00000295911.6:c.342+218C>T	ENSP00000295911.2:n.342+218C>T
ENST00000327047.5:c.*89C>T	ENSP00000322280.1:n.*89C>T
ENST00000562308.5:c.104+13735C>T
ENST00000565169.1:c.162+13735C>T
ENST00000569170.5:c.162+13735C>T
NM_001195794.1:c.*89C>T , LRG_700t1:c.*89C>T	NP_001182723.1:n.*89C>T
NM_001256819.1:c.*402C>T	NP_001243748.1:n.*402C>T
NM_052995.2:c.342+218C>T , LRG_700t2:c.342+218C>T	NP_443721.1:n.342+218C>T
NM_174878.2:c.*89C>T	NP_777367.1:n.*89C>T
NR_046380.2:n.1269C>T
XR_924167.1:n.1100C>T
NM_001256819.2:c.*402C>T	NP_001243748.1:n.*402C>T
NM_174878.3:c.*89C>T MANE Select	NP_777367.1:n.*89C>T
NR_046380.3:n.997C>T