Canonical Allele Identifier: CA355012078

Gene: CLRN1

Linked Data

• dbSNP Id: rs1319315161
• gnomAD v2: 3-150690408-T-C
• gnomAD v4: 3-150972621-T-C
• MyVariant Identifiers: chr3:g.150690408T>C (hg19) ; chr3:g.150972621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972621T>C , CM000665.2:g.150972621T>C	GRCh38
NC_000003.11:g.150690408T>C , CM000665.1:g.150690408T>C	GRCh37
NC_000003.10:g.152173098T>C	NCBI36
NG_009168.1:g.5379A>G , LRG_700:g.5379A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.88A>G MANE Select	ENSP00000322280.1:p.Thr30Ala
ENST00000468836.2:c.64A>G	ENSP00000419892.2:p.Thr22Ala
ENST00000327047.5:c.88A>G	ENSP00000322280.1:p.Thr30Ala
ENST00000328863.8:c.88A>G	ENSP00000329158.4:p.Thr30Ala
ENST00000468836.1:c.-313A>G	ENSP00000419892.1:n.-313A>G
ENST00000472224.1:n.94A>G
NM_001195794.1:c.88A>G , LRG_700t1:c.88A>G	NP_001182723.1:p.Thr30Ala
NM_001256819.1:c.88A>G	NP_001243748.1:p.Thr30Ala
NM_174878.2:c.88A>G	NP_777367.1:p.Thr30Ala
NR_046380.2:n.379A>G
XR_924167.1:n.400A>G
NM_001256819.2:c.88A>G	NP_001243748.1:p.Thr30Ala
NM_174878.3:c.88A>G MANE Select	NP_777367.1:p.Thr30Ala
NR_046380.3:n.107A>G