Canonical Allele Identifier: CA436403129

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2090812
• ClinVar RCV Id: RCV003005948
• dbSNP Id: rs1170559446
• gnomAD v2: 3-150690402-A-G
• gnomAD v4: 3-150972615-A-G
• MyVariant Identifiers: chr3:g.150690402A>G (hg19) ; chr3:g.150972615A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972615A>G , CM000665.2:g.150972615A>G	GRCh38
NC_000003.11:g.150690402A>G , CM000665.1:g.150690402A>G	GRCh37
NC_000003.10:g.152173092A>G	NCBI36
NG_009168.1:g.5385T>C , LRG_700:g.5385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.94T>C MANE Select	ENSP00000322280.1:p.Leu32=
ENST00000468836.2:c.70T>C	ENSP00000419892.2:p.Leu24=
ENST00000327047.5:c.94T>C	ENSP00000322280.1:p.Leu32=
ENST00000328863.8:c.94T>C	ENSP00000329158.4:p.Leu32=
ENST00000468836.1:c.-307T>C	ENSP00000419892.1:n.-307T>C
ENST00000472224.1:n.100T>C
NM_001195794.1:c.94T>C , LRG_700t1:c.94T>C	NP_001182723.1:p.Leu32=
NM_001256819.1:c.94T>C	NP_001243748.1:p.Leu32=
NM_174878.2:c.94T>C	NP_777367.1:p.Leu32=
NR_046380.2:n.385T>C
XR_924167.1:n.406T>C
NM_001256819.2:c.94T>C	NP_001243748.1:p.Leu32=
NM_174878.3:c.94T>C MANE Select	NP_777367.1:p.Leu32=
NR_046380.3:n.113T>C