Canonical Allele Identifier: CA546976652

Gene: CLRN1

Linked Data

• dbSNP Id: rs1158235852
• gnomAD v2: 3-150658476-G-C
• MyVariant Identifiers: chr3:g.150658476G>C (hg19) ; chr3:g.150940689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940689G>C , CM000665.2:g.150940689G>C	GRCh38
NC_000003.11:g.150658476G>C , CM000665.1:g.150658476G>C	GRCh37
NC_000003.10:g.152141166G>C	NCBI36
NG_009168.1:g.37311C>G , LRG_700:g.37311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+893C>G MANE Select	ENSP00000322280.1:n.433+893C>G
ENST00000468836.2:c.581+893C>G	ENSP00000419892.2:n.581+893C>G
ENST00000644099.1:c.426-170C>G	ENSP00000494762.1:n.426-170C>G
ENST00000295911.6:c.205+893C>G	ENSP00000295911.2:n.205+893C>G
ENST00000327047.5:c.433+893C>G	ENSP00000322280.1:n.433+893C>G
ENST00000328863.8:c.434-170C>G	ENSP00000329158.4:n.434-170C>G
ENST00000468836.1:c.205+893C>G	ENSP00000419892.1:n.205+893C>G
ENST00000485607.1:c.97+893C>G	ENSP00000419244.1:n.97+893C>G
ENST00000562308.5:c.104+893C>G
ENST00000565169.1:c.162+893C>G
ENST00000569170.5:c.162+893C>G
NM_001195794.1:c.434-170C>G , LRG_700t1:c.434-170C>G	NP_001182723.1:n.434-170C>G
NM_001256819.1:c.*47+893C>G	NP_001243748.1:n.*47+893C>G
NM_052995.2:c.205+893C>G , LRG_700t2:c.205+893C>G	NP_443721.1:n.205+893C>G
NM_174878.2:c.433+893C>G	NP_777367.1:n.433+893C>G
NR_046380.2:n.876-170C>G
XR_924167.1:n.745+893C>G
NM_001256819.2:c.*47+893C>G	NP_001243748.1:n.*47+893C>G
NM_174878.3:c.433+893C>G MANE Select	NP_777367.1:n.433+893C>G
NR_046380.3:n.604-170C>G