Canonical Allele Identifier: CA354955900

Gene: CLRN1

Linked Data

• dbSNP Id: rs1275617847
• gnomAD v2: 3-150659492-A-G
• gnomAD v3: 3-150941705-A-G
• gnomAD v4: 3-150941705-A-G
• MyVariant Identifiers: chr3:g.150659492A>G (hg19) ; chr3:g.150941705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941705A>G , CM000665.2:g.150941705A>G	GRCh38
NC_000003.11:g.150659492A>G , CM000665.1:g.150659492A>G	GRCh37
NC_000003.10:g.152142182A>G	NCBI36
NG_009168.1:g.36295T>C , LRG_700:g.36295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.310T>C MANE Select	ENSP00000322280.1:p.Phe104Leu
ENST00000468836.2:c.458T>C	ENSP00000419892.2:p.Leu153Pro
ENST00000644099.1:c.302T>C	ENSP00000494762.1:n.302T>C
ENST00000295911.6:c.82T>C	ENSP00000295911.2:p.Phe28Leu
ENST00000327047.5:c.310T>C	ENSP00000322280.1:p.Phe104Leu
ENST00000328863.8:c.310T>C	ENSP00000329158.4:p.Phe104Leu
ENST00000468836.1:c.82T>C	ENSP00000419892.1:p.Phe28Leu
ENST00000472224.1:n.316T>C
ENST00000485607.1:c.-27T>C	ENSP00000419244.1:n.-27T>C
ENST00000565169.1:c.39T>C
ENST00000569170.5:c.39T>C
NM_001195794.1:c.310T>C , LRG_700t1:c.310T>C	NP_001182723.1:p.Phe104Leu
NM_001256819.1:c.482T>C	NP_001243748.1:p.Leu161Pro
NM_052995.2:c.82T>C , LRG_700t2:c.82T>C	NP_443721.1:p.Phe28Leu
NM_174878.2:c.310T>C	NP_777367.1:p.Phe104Leu
NR_046380.2:n.752T>C
XR_924167.1:n.622T>C
NM_001256819.2:c.482T>C	NP_001243748.1:p.Leu161Pro
NM_174878.3:c.310T>C MANE Select	NP_777367.1:p.Phe104Leu
NR_046380.3:n.480T>C