Canonical Allele Identifier: CA85947811

Gene: CLRN1

Linked Data

• dbSNP Id: rs371082530
• gnomAD v3: 3-150972487-A-T
• gnomAD v4: 3-150972487-A-T
• MyVariant Identifiers: chr3:g.150690274A>T (hg19) ; chr3:g.150972487A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972487A>T , CM000665.2:g.150972487A>T	GRCh38
NC_000003.11:g.150690274A>T , CM000665.1:g.150690274A>T	GRCh37
NC_000003.10:g.152172964A>T	NCBI36
NG_009168.1:g.5513T>A , LRG_700:g.5513T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.222T>A MANE Select	ENSP00000322280.1:p.Cys74Ter
ENST00000468836.2:c.198T>A	ENSP00000419892.2:p.Cys66Ter
ENST00000644099.1:c.63T>A	ENSP00000494762.1:p.Cys21Ter
ENST00000645441.1:c.64T>A
ENST00000327047.5:c.222T>A	ENSP00000322280.1:p.Cys74Ter
ENST00000328863.8:c.222T>A	ENSP00000329158.4:p.Cys74Ter
ENST00000468836.1:c.-179T>A	ENSP00000419892.1:n.-179T>A
ENST00000472224.1:n.228T>A
NM_001195794.1:c.222T>A , LRG_700t1:c.222T>A	NP_001182723.1:p.Cys74Ter
NM_001256819.1:c.222T>A	NP_001243748.1:p.Cys74Ter
NM_174878.2:c.222T>A	NP_777367.1:p.Cys74Ter
NR_046380.2:n.513T>A
XR_924167.1:n.534T>A
NM_001256819.2:c.222T>A	NP_001243748.1:p.Cys74Ter
NM_174878.3:c.222T>A MANE Select	NP_777367.1:p.Cys74Ter
NR_046380.3:n.241T>A