Canonical Allele Identifier: CA2666209

Gene: CLRN1

Linked Data

• dbSNP Id: rs753722450
• ExAC: 3:150690351 C / G
• gnomAD v2: 3-150690351-C-G
• gnomAD v4: 3-150972564-C-G
• MyVariant Identifiers: chr3:g.150690351C>G (hg19) ; chr3:g.150972564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972564C>G , CM000665.2:g.150972564C>G	GRCh38
NC_000003.11:g.150690351C>G , CM000665.1:g.150690351C>G	GRCh37
NC_000003.10:g.152173041C>G	NCBI36
NG_009168.1:g.5436G>C , LRG_700:g.5436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.145G>C MANE Select	ENSP00000322280.1:p.Ala49Pro
ENST00000468836.2:c.121G>C	ENSP00000419892.2:p.Ala41Pro
ENST00000327047.5:c.145G>C	ENSP00000322280.1:p.Ala49Pro
ENST00000328863.8:c.145G>C	ENSP00000329158.4:p.Ala49Pro
ENST00000468836.1:c.-256G>C	ENSP00000419892.1:n.-256G>C
ENST00000472224.1:n.151G>C
NM_001195794.1:c.145G>C , LRG_700t1:c.145G>C	NP_001182723.1:p.Ala49Pro
NM_001256819.1:c.145G>C	NP_001243748.1:p.Ala49Pro
NM_174878.2:c.145G>C	NP_777367.1:p.Ala49Pro
NR_046380.2:n.436G>C
XR_924167.1:n.457G>C
NM_001256819.2:c.145G>C	NP_001243748.1:p.Ala49Pro
NM_174878.3:c.145G>C MANE Select	NP_777367.1:p.Ala49Pro
NR_046380.3:n.164G>C