Canonical Allele Identifier: CA355012000

Gene: CLRN1

Linked Data

• dbSNP Id: rs1215247240
• gnomAD v3: 3-150972585-T-G
• gnomAD v4: 3-150972585-T-G
• MyVariant Identifiers: chr3:g.150690372T>G (hg19) ; chr3:g.150972585T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972585T>G , CM000665.2:g.150972585T>G	GRCh38
NC_000003.11:g.150690372T>G , CM000665.1:g.150690372T>G	GRCh37
NC_000003.10:g.152173062T>G	NCBI36
NG_009168.1:g.5415A>C , LRG_700:g.5415A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.124A>C MANE Select	ENSP00000322280.1:p.Thr42Pro
ENST00000468836.2:c.100A>C	ENSP00000419892.2:p.Thr34Pro
ENST00000327047.5:c.124A>C	ENSP00000322280.1:p.Thr42Pro
ENST00000328863.8:c.124A>C	ENSP00000329158.4:p.Thr42Pro
ENST00000468836.1:c.-277A>C	ENSP00000419892.1:n.-277A>C
ENST00000472224.1:n.130A>C
NM_001195794.1:c.124A>C , LRG_700t1:c.124A>C	NP_001182723.1:p.Thr42Pro
NM_001256819.1:c.124A>C	NP_001243748.1:p.Thr42Pro
NM_174878.2:c.124A>C	NP_777367.1:p.Thr42Pro
NR_046380.2:n.415A>C
XR_924167.1:n.436A>C
NM_001256819.2:c.124A>C	NP_001243748.1:p.Thr42Pro
NM_174878.3:c.124A>C MANE Select	NP_777367.1:p.Thr42Pro
NR_046380.3:n.143A>C