Canonical Allele Identifier: CA2668197149

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150927505-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927505G>A , CM000665.2:g.150927505G>A	GRCh38
NC_000003.11:g.150645292G>A , CM000665.1:g.150645292G>A	GRCh37
NC_000003.10:g.152127982G>A	NCBI36
NG_009168.1:g.50495C>T , LRG_700:g.50495C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*431C>T MANE Select	ENSP00000322280.1:n.*431C>T
ENST00000295911.6:c.342+560C>T	ENSP00000295911.2:n.342+560C>T
ENST00000327047.5:c.*431C>T	ENSP00000322280.1:n.*431C>T
ENST00000562308.5:c.104+14077C>T
ENST00000565169.1:c.162+14077C>T
ENST00000569170.5:c.162+14077C>T
NM_001195794.1:c.*431C>T , LRG_700t1:c.*431C>T	NP_001182723.1:n.*431C>T
NM_001256819.1:c.*744C>T	NP_001243748.1:n.*744C>T
NM_052995.2:c.342+560C>T , LRG_700t2:c.342+560C>T	NP_443721.1:n.342+560C>T
NM_174878.2:c.*431C>T	NP_777367.1:n.*431C>T
NR_046380.2:n.1611C>T
XR_924167.1:n.1442C>T
NM_001256819.2:c.*744C>T	NP_001243748.1:n.*744C>T
NM_174878.3:c.*431C>T MANE Select	NP_777367.1:n.*431C>T
NR_046380.3:n.1339C>T