Canonical Allele Identifier: CA436393840

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1152317
• ClinVar RCV Id: RCV001493614
• dbSNP Id: rs1712914653
• gnomAD v4: 3-150927966-T-C
• MyVariant Identifiers: chr3:g.150645753T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927966T>C , CM000665.2:g.150927966T>C	GRCh38
NC_000003.11:g.150645753T>C , CM000665.1:g.150645753T>C	GRCh37
NC_000003.10:g.152128443T>C	NCBI36
NG_009168.1:g.50034A>G , LRG_700:g.50034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.669A>G MANE Select	ENSP00000322280.1:p.Thr223=
ENST00000295911.6:c.342+99A>G	ENSP00000295911.2:n.342+99A>G
ENST00000327047.5:c.669A>G	ENSP00000322280.1:p.Thr223=
ENST00000328863.8:c.708A>G	ENSP00000329158.4:p.Thr236=
ENST00000562308.5:c.104+13616A>G
ENST00000565169.1:c.162+13616A>G
ENST00000569170.5:c.162+13616A>G
NM_001195794.1:c.708A>G , LRG_700t1:c.708A>G	NP_001182723.1:p.Thr236=
NM_001256819.1:c.*283A>G	NP_001243748.1:n.*283A>G
NM_052995.2:c.342+99A>G , LRG_700t2:c.342+99A>G	NP_443721.1:n.342+99A>G
NM_174878.2:c.669A>G	NP_777367.1:p.Thr223=
NR_046380.2:n.1150A>G
XR_924167.1:n.981A>G
NM_001256819.2:c.*283A>G	NP_001243748.1:n.*283A>G
NM_174878.3:c.669A>G MANE Select	NP_777367.1:p.Thr223=
NR_046380.3:n.878A>G