Canonical Allele Identifier: CA546974270

Gene: CLRN1

Linked Data

• dbSNP Id: rs1173789502
• gnomAD v2: 3-150644565-G-A
• gnomAD v4: 3-150926778-G-A
• MyVariant Identifiers: chr3:g.150644565G>A (hg19) ; chr3:g.150926778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926778G>A , CM000665.2:g.150926778G>A	GRCh38
NC_000003.11:g.150644565G>A , CM000665.1:g.150644565G>A	GRCh37
NC_000003.10:g.152127255G>A	NCBI36
NG_009168.1:g.51222C>T , LRG_700:g.51222C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1158C>T MANE Select	ENSP00000322280.1:n.*1158C>T
ENST00000295911.6:c.*74C>T	ENSP00000295911.2:n.*74C>T
ENST00000327047.5:c.*1158C>T	ENSP00000322280.1:n.*1158C>T
ENST00000562308.5:c.104+14804C>T
ENST00000565169.1:c.162+14804C>T
ENST00000569170.5:c.162+14804C>T
NM_001195794.1:c.*1158C>T , LRG_700t1:c.*1158C>T	NP_001182723.1:n.*1158C>T
NM_001256819.1:c.*1471C>T	NP_001243748.1:n.*1471C>T
NM_052995.2:c.*74C>T , LRG_700t2:c.*74C>T	NP_443721.1:n.*74C>T
NM_174878.2:c.*1158C>T	NP_777367.1:n.*1158C>T
NR_046380.2:n.2338C>T
XR_924167.1:n.2169C>T
NM_001256819.2:c.*1471C>T	NP_001243748.1:n.*1471C>T
NM_174878.3:c.*1158C>T MANE Select	NP_777367.1:n.*1158C>T
NR_046380.3:n.2066C>T