Canonical Allele Identifier: CA354955015

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150940511-A-G
• MyVariant Identifiers: chr3:g.150658298A>G (hg19) ; chr3:g.150940511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940511A>G , CM000665.2:g.150940511A>G	GRCh38
NC_000003.11:g.150658298A>G , CM000665.1:g.150658298A>G	GRCh37
NC_000003.10:g.152140988A>G	NCBI36
NG_009168.1:g.37489T>C , LRG_700:g.37489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1071T>C MANE Select	ENSP00000322280.1:n.433+1071T>C
ENST00000468836.2:c.581+1071T>C	ENSP00000419892.2:n.581+1071T>C
ENST00000644099.1:c.434T>C	ENSP00000494762.1:n.434T>C
ENST00000295911.6:c.205+1071T>C	ENSP00000295911.2:n.205+1071T>C
ENST00000327047.5:c.433+1071T>C	ENSP00000322280.1:n.433+1071T>C
ENST00000328863.8:c.442T>C	ENSP00000329158.4:p.Trp148Arg
ENST00000468836.1:c.205+1071T>C	ENSP00000419892.1:n.205+1071T>C
ENST00000485607.1:c.97+1071T>C	ENSP00000419244.1:n.97+1071T>C
ENST00000562308.5:c.104+1071T>C
ENST00000565169.1:c.162+1071T>C
ENST00000569170.5:c.162+1071T>C
NM_001195794.1:c.442T>C , LRG_700t1:c.442T>C	NP_001182723.1:p.Trp148Arg
NM_001256819.1:c.*47+1071T>C	NP_001243748.1:n.*47+1071T>C
NM_052995.2:c.205+1071T>C , LRG_700t2:c.205+1071T>C	NP_443721.1:n.205+1071T>C
NM_174878.2:c.433+1071T>C	NP_777367.1:n.433+1071T>C
NR_046380.2:n.884T>C
XR_924167.1:n.745+1071T>C
NM_001256819.2:c.*47+1071T>C	NP_001243748.1:n.*47+1071T>C
NM_174878.3:c.433+1071T>C MANE Select	NP_777367.1:n.433+1071T>C
NR_046380.3:n.612T>C