Canonical Allele Identifier: CA355011807

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972492-G-C
• MyVariant Identifiers: chr3:g.150690279G>C (hg19) ; chr3:g.150972492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972492G>C , CM000665.2:g.150972492G>C	GRCh38
NC_000003.11:g.150690279G>C , CM000665.1:g.150690279G>C	GRCh37
NC_000003.10:g.152172969G>C	NCBI36
NG_009168.1:g.5508C>G , LRG_700:g.5508C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.217C>G MANE Select	ENSP00000322280.1:p.Gln73Glu
ENST00000468836.2:c.193C>G	ENSP00000419892.2:p.Gln65Glu
ENST00000644099.1:c.58C>G	ENSP00000494762.1:p.Gln20Glu
ENST00000645441.1:c.59C>G
ENST00000327047.5:c.217C>G	ENSP00000322280.1:p.Gln73Glu
ENST00000328863.8:c.217C>G	ENSP00000329158.4:p.Gln73Glu
ENST00000468836.1:c.-184C>G	ENSP00000419892.1:n.-184C>G
ENST00000472224.1:n.223C>G
NM_001195794.1:c.217C>G , LRG_700t1:c.217C>G	NP_001182723.1:p.Gln73Glu
NM_001256819.1:c.217C>G	NP_001243748.1:p.Gln73Glu
NM_174878.2:c.217C>G	NP_777367.1:p.Gln73Glu
NR_046380.2:n.508C>G
XR_924167.1:n.529C>G
NM_001256819.2:c.217C>G	NP_001243748.1:p.Gln73Glu
NM_174878.3:c.217C>G MANE Select	NP_777367.1:p.Gln73Glu
NR_046380.3:n.236C>G