Canonical Allele Identifier: CA436403196

Gene: CLRN1

Linked Data

• dbSNP Id: rs1715605993
• gnomAD v3: 3-150972661-G-A
• gnomAD v4: 3-150972661-G-A
• MyVariant Identifiers: chr3:g.150690448G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972661G>A , CM000665.2:g.150972661G>A	GRCh38
NC_000003.11:g.150690448G>A , CM000665.1:g.150690448G>A	GRCh37
NC_000003.10:g.152173138G>A	NCBI36
NG_009168.1:g.5339C>T , LRG_700:g.5339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.48C>T MANE Select	ENSP00000322280.1:p.Phe16=
ENST00000468836.2:c.24C>T	ENSP00000419892.2:p.Phe8=
ENST00000327047.5:c.48C>T	ENSP00000322280.1:p.Phe16=
ENST00000328863.8:c.48C>T	ENSP00000329158.4:p.Phe16=
ENST00000468836.1:c.-353C>T	ENSP00000419892.1:n.-353C>T
ENST00000472224.1:n.54C>T
NM_001195794.1:c.48C>T , LRG_700t1:c.48C>T	NP_001182723.1:p.Phe16=
NM_001256819.1:c.48C>T	NP_001243748.1:p.Phe16=
NM_174878.2:c.48C>T	NP_777367.1:p.Phe16=
NR_046380.2:n.339C>T
XR_924167.1:n.360C>T
NM_001256819.2:c.48C>T	NP_001243748.1:p.Phe16=
NM_174878.3:c.48C>T MANE Select	NP_777367.1:p.Phe16=
NR_046380.3:n.67C>T