Canonical Allele Identifier: CA436265221

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941598-A-C
• MyVariant Identifiers: chr3:g.150659385A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941598A>C , CM000665.2:g.150941598A>C	GRCh38
NC_000003.11:g.150659385A>C , CM000665.1:g.150659385A>C	GRCh37
NC_000003.10:g.152142075A>C	NCBI36
NG_009168.1:g.36402T>G , LRG_700:g.36402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.417T>G MANE Select	ENSP00000322280.1:p.Leu139=
ENST00000468836.2:c.565T>G	ENSP00000419892.2:n.565T>G
ENST00000644099.1:c.409T>G	ENSP00000494762.1:n.409T>G
ENST00000295911.6:c.189T>G	ENSP00000295911.2:p.Leu63=
ENST00000327047.5:c.417T>G	ENSP00000322280.1:p.Leu139=
ENST00000328863.8:c.417T>G	ENSP00000329158.4:p.Leu139=
ENST00000468836.1:c.189T>G	ENSP00000419892.1:p.Leu63=
ENST00000472224.1:n.423T>G
ENST00000485607.1:c.81T>G	ENSP00000419244.1:p.Leu27=
ENST00000562308.5:c.88T>G
ENST00000565169.1:c.146T>G
ENST00000569170.5:c.146T>G
NM_001195794.1:c.417T>G , LRG_700t1:c.417T>G	NP_001182723.1:p.Leu139=
NM_001256819.1:c.*31T>G	NP_001243748.1:n.*31T>G
NM_052995.2:c.189T>G , LRG_700t2:c.189T>G	NP_443721.1:p.Leu63=
NM_174878.2:c.417T>G	NP_777367.1:p.Leu139=
NR_046380.2:n.859T>G
XR_924167.1:n.729T>G
NM_001256819.2:c.*31T>G	NP_001243748.1:n.*31T>G
NM_174878.3:c.417T>G MANE Select	NP_777367.1:p.Leu139=
NR_046380.3:n.587T>G