Canonical Allele Identifier: CA2666181

Gene: CLRN1

Linked Data

• dbSNP Id: rs764545194
• ExAC: 3:150690247 G / C
• gnomAD v2: 3-150690247-G-C
• gnomAD v4: 3-150972460-G-C
• MyVariant Identifiers: chr3:g.150690247G>C (hg19) ; chr3:g.150972460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972460G>C , CM000665.2:g.150972460G>C	GRCh38
NC_000003.11:g.150690247G>C , CM000665.1:g.150690247G>C	GRCh37
NC_000003.10:g.152172937G>C	NCBI36
NG_009168.1:g.5540C>G , LRG_700:g.5540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.249C>G MANE Select	ENSP00000322280.1:p.Phe83Leu
ENST00000468836.2:c.225C>G	ENSP00000419892.2:p.Phe75Leu
ENST00000644099.1:c.90C>G	ENSP00000494762.1:p.Phe30Leu
ENST00000645441.1:c.91C>G
ENST00000327047.5:c.249C>G	ENSP00000322280.1:p.Phe83Leu
ENST00000328863.8:c.249C>G	ENSP00000329158.4:p.Phe83Leu
ENST00000468836.1:c.-152C>G	ENSP00000419892.1:n.-152C>G
ENST00000472224.1:n.255C>G
NM_001195794.1:c.249C>G , LRG_700t1:c.249C>G	NP_001182723.1:p.Phe83Leu
NM_001256819.1:c.249C>G	NP_001243748.1:p.Phe83Leu
NM_174878.2:c.249C>G	NP_777367.1:p.Phe83Leu
NR_046380.2:n.540C>G
XR_924167.1:n.561C>G
NM_001256819.2:c.249C>G	NP_001243748.1:p.Phe83Leu
NM_174878.3:c.249C>G MANE Select	NP_777367.1:p.Phe83Leu
NR_046380.3:n.268C>G