Canonical Allele Identifier: CA2666198

Gene: CLRN1

Linked Data

• dbSNP Id: rs182614686
• ExAC: 3:150690331 G / C
• gnomAD v2: 3-150690331-G-C
• gnomAD v3: 3-150972544-G-C
• gnomAD v4: 3-150972544-G-C
• MyVariant Identifiers: chr3:g.150690331G>C (hg19) ; chr3:g.150972544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972544G>C , CM000665.2:g.150972544G>C	GRCh38
NC_000003.11:g.150690331G>C , CM000665.1:g.150690331G>C	GRCh37
NC_000003.10:g.152173021G>C	NCBI36
NG_009168.1:g.5456C>G , LRG_700:g.5456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.165C>G MANE Select	ENSP00000322280.1:p.Asp55Glu
ENST00000468836.2:c.141C>G	ENSP00000419892.2:p.Asp47Glu
ENST00000644099.1:c.6C>G	ENSP00000494762.1:p.Asp2Glu
ENST00000645441.1:c.7C>G
ENST00000327047.5:c.165C>G	ENSP00000322280.1:p.Asp55Glu
ENST00000328863.8:c.165C>G	ENSP00000329158.4:p.Asp55Glu
ENST00000468836.1:c.-236C>G	ENSP00000419892.1:n.-236C>G
ENST00000472224.1:n.171C>G
NM_001195794.1:c.165C>G , LRG_700t1:c.165C>G	NP_001182723.1:p.Asp55Glu
NM_001256819.1:c.165C>G	NP_001243748.1:p.Asp55Glu
NM_174878.2:c.165C>G	NP_777367.1:p.Asp55Glu
NR_046380.2:n.456C>G
XR_924167.1:n.477C>G
NM_001256819.2:c.165C>G	NP_001243748.1:p.Asp55Glu
NM_174878.3:c.165C>G MANE Select	NP_777367.1:p.Asp55Glu
NR_046380.3:n.184C>G