Canonical Allele Identifier: CA2668197804

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941509-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941509T>C , CM000665.2:g.150941509T>C	GRCh38
NC_000003.11:g.150659296T>C , CM000665.1:g.150659296T>C	GRCh37
NC_000003.10:g.152141986T>C	NCBI36
NG_009168.1:g.36491A>G , LRG_700:g.36491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+73A>G MANE Select	ENSP00000322280.1:n.433+73A>G
ENST00000468836.2:c.581+73A>G	ENSP00000419892.2:n.581+73A>G
ENST00000644099.1:c.425+73A>G	ENSP00000494762.1:n.425+73A>G
ENST00000295911.6:c.205+73A>G	ENSP00000295911.2:n.205+73A>G
ENST00000327047.5:c.433+73A>G	ENSP00000322280.1:n.433+73A>G
ENST00000328863.8:c.433+73A>G	ENSP00000329158.4:n.433+73A>G
ENST00000468836.1:c.205+73A>G	ENSP00000419892.1:n.205+73A>G
ENST00000472224.1:n.512A>G
ENST00000485607.1:c.97+73A>G	ENSP00000419244.1:n.97+73A>G
ENST00000562308.5:c.104+73A>G
ENST00000565169.1:c.162+73A>G
ENST00000569170.5:c.162+73A>G
NM_001195794.1:c.433+73A>G , LRG_700t1:c.433+73A>G	NP_001182723.1:n.433+73A>G
NM_001256819.1:c.*47+73A>G	NP_001243748.1:n.*47+73A>G
NM_052995.2:c.205+73A>G , LRG_700t2:c.205+73A>G	NP_443721.1:n.205+73A>G
NM_174878.2:c.433+73A>G	NP_777367.1:n.433+73A>G
NR_046380.2:n.875+73A>G
XR_924167.1:n.745+73A>G
NM_001256819.2:c.*47+73A>G	NP_001243748.1:n.*47+73A>G
NM_174878.3:c.433+73A>G MANE Select	NP_777367.1:n.433+73A>G
NR_046380.3:n.603+73A>G