Canonical Allele Identifier: CA2666052

Gene: CLRN1

Linked Data

• dbSNP Id: rs760337103
• ExAC: 3:150658307 C / T
• gnomAD v2: 3-150658307-C-T
• gnomAD v4: 3-150940520-C-T
• MyVariant Identifiers: chr3:g.150658307C>T (hg19) ; chr3:g.150940520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940520C>T , CM000665.2:g.150940520C>T	GRCh38
NC_000003.11:g.150658307C>T , CM000665.1:g.150658307C>T	GRCh37
NC_000003.10:g.152140997C>T	NCBI36
NG_009168.1:g.37480G>A , LRG_700:g.37480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1062G>A MANE Select	ENSP00000322280.1:n.433+1062G>A
ENST00000468836.2:c.581+1062G>A	ENSP00000419892.2:n.581+1062G>A
ENST00000644099.1:c.426-1G>A	ENSP00000494762.1:n.426-1G>A
ENST00000295911.6:c.205+1062G>A	ENSP00000295911.2:n.205+1062G>A
ENST00000327047.5:c.433+1062G>A	ENSP00000322280.1:n.433+1062G>A
ENST00000328863.8:c.434-1G>A	ENSP00000329158.4:n.434-1G>A
ENST00000468836.1:c.205+1062G>A	ENSP00000419892.1:n.205+1062G>A
ENST00000485607.1:c.97+1062G>A	ENSP00000419244.1:n.97+1062G>A
ENST00000562308.5:c.104+1062G>A
ENST00000565169.1:c.162+1062G>A
ENST00000569170.5:c.162+1062G>A
NM_001195794.1:c.434-1G>A , LRG_700t1:c.434-1G>A	NP_001182723.1:n.434-1G>A
NM_001256819.1:c.*47+1062G>A	NP_001243748.1:n.*47+1062G>A
NM_052995.2:c.205+1062G>A , LRG_700t2:c.205+1062G>A	NP_443721.1:n.205+1062G>A
NM_174878.2:c.433+1062G>A	NP_777367.1:n.433+1062G>A
NR_046380.2:n.876-1G>A
XR_924167.1:n.745+1062G>A
NM_001256819.2:c.*47+1062G>A	NP_001243748.1:n.*47+1062G>A
NM_174878.3:c.433+1062G>A MANE Select	NP_777367.1:n.433+1062G>A
NR_046380.3:n.604-1G>A