Canonical Allele Identifier: CA436403120

Gene: CLRN1

Linked Data

• dbSNP Id: rs1715600109
• gnomAD v4: 3-150972598-A-C
• MyVariant Identifiers: chr3:g.150690385A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972598A>C , CM000665.2:g.150972598A>C	GRCh38
NC_000003.11:g.150690385A>C , CM000665.1:g.150690385A>C	GRCh37
NC_000003.10:g.152173075A>C	NCBI36
NG_009168.1:g.5402T>G , LRG_700:g.5402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.111T>G MANE Select	ENSP00000322280.1:p.Thr37=
ENST00000468836.2:c.87T>G	ENSP00000419892.2:p.Thr29=
ENST00000327047.5:c.111T>G	ENSP00000322280.1:p.Thr37=
ENST00000328863.8:c.111T>G	ENSP00000329158.4:p.Thr37=
ENST00000468836.1:c.-290T>G	ENSP00000419892.1:n.-290T>G
ENST00000472224.1:n.117T>G
NM_001195794.1:c.111T>G , LRG_700t1:c.111T>G	NP_001182723.1:p.Thr37=
NM_001256819.1:c.111T>G	NP_001243748.1:p.Thr37=
NM_174878.2:c.111T>G	NP_777367.1:p.Thr37=
NR_046380.2:n.402T>G
XR_924167.1:n.423T>G
NM_001256819.2:c.111T>G	NP_001243748.1:p.Thr37=
NM_174878.3:c.111T>G MANE Select	NP_777367.1:p.Thr37=
NR_046380.3:n.130T>G