Canonical Allele Identifier: CA355011802

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972490-C-G
• MyVariant Identifiers: chr3:g.150690277C>G (hg19) ; chr3:g.150972490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972490C>G , CM000665.2:g.150972490C>G	GRCh38
NC_000003.11:g.150690277C>G , CM000665.1:g.150690277C>G	GRCh37
NC_000003.10:g.152172967C>G	NCBI36
NG_009168.1:g.5510G>C , LRG_700:g.5510G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.219G>C MANE Select	ENSP00000322280.1:p.Gln73His
ENST00000468836.2:c.195G>C	ENSP00000419892.2:p.Gln65His
ENST00000644099.1:c.60G>C	ENSP00000494762.1:p.Gln20His
ENST00000645441.1:c.61G>C
ENST00000327047.5:c.219G>C	ENSP00000322280.1:p.Gln73His
ENST00000328863.8:c.219G>C	ENSP00000329158.4:p.Gln73His
ENST00000468836.1:c.-182G>C	ENSP00000419892.1:n.-182G>C
ENST00000472224.1:n.225G>C
NM_001195794.1:c.219G>C , LRG_700t1:c.219G>C	NP_001182723.1:p.Gln73His
NM_001256819.1:c.219G>C	NP_001243748.1:p.Gln73His
NM_174878.2:c.219G>C	NP_777367.1:p.Gln73His
NR_046380.2:n.510G>C
XR_924167.1:n.531G>C
NM_001256819.2:c.219G>C	NP_001243748.1:p.Gln73His
NM_174878.3:c.219G>C MANE Select	NP_777367.1:p.Gln73His
NR_046380.3:n.238G>C