Canonical Allele Identifier: CA354953094

Gene: CLRN1

Linked Data

• MyVariant Identifiers: chr3:g.150645879T>G (hg19) ; chr3:g.150928092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150928092T>G , CM000665.2:g.150928092T>G	GRCh38
NC_000003.11:g.150645879T>G , CM000665.1:g.150645879T>G	GRCh37
NC_000003.10:g.152128569T>G	NCBI36
NG_009168.1:g.49908A>C , LRG_700:g.49908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.543A>C MANE Select	ENSP00000322280.1:p.Gln181His
ENST00000468836.2:c.691A>C	ENSP00000419892.2:n.691A>C
ENST00000295911.6:c.315A>C	ENSP00000295911.2:p.Gln105His
ENST00000327047.5:c.543A>C	ENSP00000322280.1:p.Gln181His
ENST00000328863.8:c.582A>C	ENSP00000329158.4:p.Gln194His
ENST00000468836.1:c.315A>C	ENSP00000419892.1:p.Gln105His
ENST00000562308.5:c.104+13490A>C
ENST00000565169.1:c.162+13490A>C
ENST00000569170.5:c.162+13490A>C
NM_001195794.1:c.582A>C , LRG_700t1:c.582A>C	NP_001182723.1:p.Gln194His
NM_001256819.1:c.*157A>C	NP_001243748.1:n.*157A>C
NM_052995.2:c.315A>C , LRG_700t2:c.315A>C	NP_443721.1:p.Gln105His
NM_174878.2:c.543A>C	NP_777367.1:p.Gln181His
NR_046380.2:n.1024A>C
XR_924167.1:n.855A>C
NM_001256819.2:c.*157A>C	NP_001243748.1:n.*157A>C
NM_174878.3:c.543A>C MANE Select	NP_777367.1:p.Gln181His
NR_046380.3:n.752A>C