Canonical Allele Identifier: CA355011820

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972500-C-A
• MyVariant Identifiers: chr3:g.150690287C>A (hg19) ; chr3:g.150972500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972500C>A , CM000665.2:g.150972500C>A	GRCh38
NC_000003.11:g.150690287C>A , CM000665.1:g.150690287C>A	GRCh37
NC_000003.10:g.152172977C>A	NCBI36
NG_009168.1:g.5500G>T , LRG_700:g.5500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.209G>T MANE Select	ENSP00000322280.1:p.Gly70Val
ENST00000468836.2:c.185G>T	ENSP00000419892.2:p.Gly62Val
ENST00000644099.1:c.50G>T	ENSP00000494762.1:p.Gly17Val
ENST00000645441.1:c.51G>T
ENST00000327047.5:c.209G>T	ENSP00000322280.1:p.Gly70Val
ENST00000328863.8:c.209G>T	ENSP00000329158.4:p.Gly70Val
ENST00000468836.1:c.-192G>T	ENSP00000419892.1:n.-192G>T
ENST00000472224.1:n.215G>T
NM_001195794.1:c.209G>T , LRG_700t1:c.209G>T	NP_001182723.1:p.Gly70Val
NM_001256819.1:c.209G>T	NP_001243748.1:p.Gly70Val
NM_174878.2:c.209G>T	NP_777367.1:p.Gly70Val
NR_046380.2:n.500G>T
XR_924167.1:n.521G>T
NM_001256819.2:c.209G>T	NP_001243748.1:p.Gly70Val
NM_174878.3:c.209G>T MANE Select	NP_777367.1:p.Gly70Val
NR_046380.3:n.228G>T