Canonical Allele Identifier: CA2665971

Gene: CLRN1

Linked Data

• dbSNP Id: rs759597787
• ExAC: 3:150645637 G / A
• gnomAD v2: 3-150645637-G-A
• gnomAD v3: 3-150927850-G-A
• gnomAD v4: 3-150927850-G-A
• MyVariant Identifiers: chr3:g.150645637G>A (hg19) ; chr3:g.150927850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927850G>A , CM000665.2:g.150927850G>A	GRCh38
NC_000003.11:g.150645637G>A , CM000665.1:g.150645637G>A	GRCh37
NC_000003.10:g.152128327G>A	NCBI36
NG_009168.1:g.50150C>T , LRG_700:g.50150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.*86C>T MANE Select	ENSP00000322280.1:n.*86C>T
ENST00000295911.6:c.342+215C>T	ENSP00000295911.2:n.342+215C>T
ENST00000327047.5:c.*86C>T	ENSP00000322280.1:n.*86C>T
ENST00000562308.5:c.104+13732C>T
ENST00000565169.1:c.162+13732C>T
ENST00000569170.5:c.162+13732C>T
NM_001195794.1:c.*86C>T , LRG_700t1:c.*86C>T	NP_001182723.1:n.*86C>T
NM_001256819.1:c.*399C>T	NP_001243748.1:n.*399C>T
NM_052995.2:c.342+215C>T , LRG_700t2:c.342+215C>T	NP_443721.1:n.342+215C>T
NM_174878.2:c.*86C>T	NP_777367.1:n.*86C>T
NR_046380.2:n.1266C>T
XR_924167.1:n.1097C>T
NM_001256819.2:c.*399C>T	NP_001243748.1:n.*399C>T
NM_174878.3:c.*86C>T MANE Select	NP_777367.1:n.*86C>T
NR_046380.3:n.994C>T