Canonical Allele Identifier: CA2668196907

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150926784-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150926784C>G , CM000665.2:g.150926784C>G	GRCh38
NC_000003.11:g.150644571C>G , CM000665.1:g.150644571C>G	GRCh37
NC_000003.10:g.152127261C>G	NCBI36
NG_009168.1:g.51216G>C , LRG_700:g.51216G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*1152G>C MANE Select	ENSP00000322280.1:n.*1152G>C
ENST00000295911.6:c.*68G>C	ENSP00000295911.2:n.*68G>C
ENST00000327047.5:c.*1152G>C	ENSP00000322280.1:n.*1152G>C
ENST00000562308.5:c.104+14798G>C
ENST00000565169.1:c.162+14798G>C
ENST00000569170.5:c.162+14798G>C
NM_001195794.1:c.*1152G>C , LRG_700t1:c.*1152G>C	NP_001182723.1:n.*1152G>C
NM_001256819.1:c.*1465G>C	NP_001243748.1:n.*1465G>C
NM_052995.2:c.*68G>C , LRG_700t2:c.*68G>C	NP_443721.1:n.*68G>C
NM_174878.2:c.*1152G>C	NP_777367.1:n.*1152G>C
NR_046380.2:n.2332G>C
XR_924167.1:n.2163G>C
NM_001256819.2:c.*1465G>C	NP_001243748.1:n.*1465G>C
NM_174878.3:c.*1152G>C MANE Select	NP_777367.1:n.*1152G>C
NR_046380.3:n.2060G>C