Canonical Allele Identifier: CA2666216

Gene: CLRN1

Linked Data

• dbSNP Id: rs770084199
• ExAC: 3:150690388 G / A
• gnomAD v2: 3-150690388-G-A
• gnomAD v4: 3-150972601-G-A
• MyVariant Identifiers: chr3:g.150690388G>A (hg19) ; chr3:g.150972601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972601G>A , CM000665.2:g.150972601G>A	GRCh38
NC_000003.11:g.150690388G>A , CM000665.1:g.150690388G>A	GRCh37
NC_000003.10:g.152173078G>A	NCBI36
NG_009168.1:g.5399C>T , LRG_700:g.5399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.108C>T MANE Select	ENSP00000322280.1:p.Ala36=
ENST00000468836.2:c.84C>T	ENSP00000419892.2:p.Ala28=
ENST00000327047.5:c.108C>T	ENSP00000322280.1:p.Ala36=
ENST00000328863.8:c.108C>T	ENSP00000329158.4:p.Ala36=
ENST00000468836.1:c.-293C>T	ENSP00000419892.1:n.-293C>T
ENST00000472224.1:n.114C>T
NM_001195794.1:c.108C>T , LRG_700t1:c.108C>T	NP_001182723.1:p.Ala36=
NM_001256819.1:c.108C>T	NP_001243748.1:p.Ala36=
NM_174878.2:c.108C>T	NP_777367.1:p.Ala36=
NR_046380.2:n.399C>T
XR_924167.1:n.420C>T
NM_001256819.2:c.108C>T	NP_001243748.1:p.Ala36=
NM_174878.3:c.108C>T MANE Select	NP_777367.1:p.Ala36=
NR_046380.3:n.127C>T