Canonical Allele Identifier: CA85691461

Gene: CLRN1

Linked Data

• dbSNP Id: rs144137203
• gnomAD v2: 3-150659310-C-T
• gnomAD v3: 3-150941523-C-T
• gnomAD v4: 3-150941523-C-T
• MyVariant Identifiers: chr3:g.150659310C>T (hg19) ; chr3:g.150941523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941523C>T , CM000665.2:g.150941523C>T	GRCh38
NC_000003.11:g.150659310C>T , CM000665.1:g.150659310C>T	GRCh37
NC_000003.10:g.152142000C>T	NCBI36
NG_009168.1:g.36477G>A , LRG_700:g.36477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+59G>A MANE Select	ENSP00000322280.1:n.433+59G>A
ENST00000468836.2:c.581+59G>A	ENSP00000419892.2:n.581+59G>A
ENST00000644099.1:c.425+59G>A	ENSP00000494762.1:n.425+59G>A
ENST00000295911.6:c.205+59G>A	ENSP00000295911.2:n.205+59G>A
ENST00000327047.5:c.433+59G>A	ENSP00000322280.1:n.433+59G>A
ENST00000328863.8:c.433+59G>A	ENSP00000329158.4:n.433+59G>A
ENST00000468836.1:c.205+59G>A	ENSP00000419892.1:n.205+59G>A
ENST00000472224.1:n.498G>A
ENST00000485607.1:c.97+59G>A	ENSP00000419244.1:n.97+59G>A
ENST00000562308.5:c.104+59G>A
ENST00000565169.1:c.162+59G>A
ENST00000569170.5:c.162+59G>A
NM_001195794.1:c.433+59G>A , LRG_700t1:c.433+59G>A	NP_001182723.1:n.433+59G>A
NM_001256819.1:c.*47+59G>A	NP_001243748.1:n.*47+59G>A
NM_052995.2:c.205+59G>A , LRG_700t2:c.205+59G>A	NP_443721.1:n.205+59G>A
NM_174878.2:c.433+59G>A	NP_777367.1:n.433+59G>A
NR_046380.2:n.875+59G>A
XR_924167.1:n.745+59G>A
NM_001256819.2:c.*47+59G>A	NP_001243748.1:n.*47+59G>A
NM_174878.3:c.433+59G>A MANE Select	NP_777367.1:n.433+59G>A
NR_046380.3:n.603+59G>A