Canonical Allele Identifier: CA2666214

Gene: CLRN1

Linked Data

• dbSNP Id: rs769266039
• ExAC: 3:150690371 G / A
• gnomAD v2: 3-150690371-G-A
• gnomAD v4: 3-150972584-G-A
• MyVariant Identifiers: chr3:g.150690371G>A (hg19) ; chr3:g.150972584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972584G>A , CM000665.2:g.150972584G>A	GRCh38
NC_000003.11:g.150690371G>A , CM000665.1:g.150690371G>A	GRCh37
NC_000003.10:g.152173061G>A	NCBI36
NG_009168.1:g.5416C>T , LRG_700:g.5416C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.125C>T MANE Select	ENSP00000322280.1:p.Thr42Met
ENST00000468836.2:c.101C>T	ENSP00000419892.2:p.Thr34Met
ENST00000327047.5:c.125C>T	ENSP00000322280.1:p.Thr42Met
ENST00000328863.8:c.125C>T	ENSP00000329158.4:p.Thr42Met
ENST00000468836.1:c.-276C>T	ENSP00000419892.1:n.-276C>T
ENST00000472224.1:n.131C>T
NM_001195794.1:c.125C>T , LRG_700t1:c.125C>T	NP_001182723.1:p.Thr42Met
NM_001256819.1:c.125C>T	NP_001243748.1:p.Thr42Met
NM_174878.2:c.125C>T	NP_777367.1:p.Thr42Met
NR_046380.2:n.416C>T
XR_924167.1:n.437C>T
NM_001256819.2:c.125C>T	NP_001243748.1:p.Thr42Met
NM_174878.3:c.125C>T MANE Select	NP_777367.1:p.Thr42Met
NR_046380.3:n.144C>T