Canonical Allele Identifier: CA546974245

Gene: CLRN1

Linked Data

• dbSNP Id: rs1435965875
• gnomAD v2: 3-150644490-G-T
• gnomAD v3: 3-150926703-G-T
• gnomAD v4: 3-150926703-G-T
• MyVariant Identifiers: chr3:g.150644490G>T (hg19) ; chr3:g.150926703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926703G>T , CM000665.2:g.150926703G>T	GRCh38
NC_000003.11:g.150644490G>T , CM000665.1:g.150644490G>T	GRCh37
NC_000003.10:g.152127180G>T	NCBI36
NG_009168.1:g.51297C>A , LRG_700:g.51297C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1233C>A MANE Select	ENSP00000322280.1:n.*1233C>A
ENST00000295911.6:c.*149C>A	ENSP00000295911.2:n.*149C>A
ENST00000327047.5:c.*1233C>A	ENSP00000322280.1:n.*1233C>A
ENST00000562308.5:c.104+14879C>A
ENST00000565169.1:c.162+14879C>A
ENST00000569170.5:c.162+14879C>A
NM_001195794.1:c.*1233C>A , LRG_700t1:c.*1233C>A	NP_001182723.1:n.*1233C>A
NM_001256819.1:c.*1546C>A	NP_001243748.1:n.*1546C>A
NM_052995.2:c.*149C>A , LRG_700t2:c.*149C>A	NP_443721.1:n.*149C>A
NM_174878.2:c.*1233C>A	NP_777367.1:n.*1233C>A
NR_046380.2:n.2413C>A
XR_924167.1:n.2244C>A
NM_001256819.2:c.*1546C>A	NP_001243748.1:n.*1546C>A
NM_174878.3:c.*1233C>A MANE Select	NP_777367.1:n.*1233C>A
NR_046380.3:n.2141C>A