Canonical Allele Identifier: CA355012014

Gene: CLRN1

Linked Data

• dbSNP Id: rs121908143
• gnomAD v2: 3-150690378-A-G
• MyVariant Identifiers: chr3:g.150690378A>G (hg19) ; chr3:g.150972591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972591A>G , CM000665.2:g.150972591A>G	GRCh38
NC_000003.11:g.150690378A>G , CM000665.1:g.150690378A>G	GRCh37
NC_000003.10:g.152173068A>G	NCBI36
NG_009168.1:g.5409T>C , LRG_700:g.5409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.118T>C MANE Select	ENSP00000322280.1:p.Cys40Arg
ENST00000468836.2:c.94T>C	ENSP00000419892.2:p.Cys32Arg
ENST00000327047.5:c.118T>C	ENSP00000322280.1:p.Cys40Arg
ENST00000328863.8:c.118T>C	ENSP00000329158.4:p.Cys40Arg
ENST00000468836.1:c.-283T>C	ENSP00000419892.1:n.-283T>C
ENST00000472224.1:n.124T>C
NM_001195794.1:c.118T>C , LRG_700t1:c.118T>C	NP_001182723.1:p.Cys40Arg
NM_001256819.1:c.118T>C	NP_001243748.1:p.Cys40Arg
NM_174878.2:c.118T>C	NP_777367.1:p.Cys40Arg
NR_046380.2:n.409T>C
XR_924167.1:n.430T>C
NM_001256819.2:c.118T>C	NP_001243748.1:p.Cys40Arg
NM_174878.3:c.118T>C MANE Select	NP_777367.1:p.Cys40Arg
NR_046380.3:n.137T>C