Canonical Allele Identifier: CA436265302

Gene: CLRN1

Linked Data

• dbSNP Id: rs1250588348
• gnomAD v2: 3-150659451-G-A
• gnomAD v4: 3-150941664-G-A
• MyVariant Identifiers: chr3:g.150659451G>A (hg19) ; chr3:g.150941664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941664G>A , CM000665.2:g.150941664G>A	GRCh38
NC_000003.11:g.150659451G>A , CM000665.1:g.150659451G>A	GRCh37
NC_000003.10:g.152142141G>A	NCBI36
NG_009168.1:g.36336C>T , LRG_700:g.36336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.351C>T MANE Select	ENSP00000322280.1:p.Ala117=
ENST00000468836.2:c.499C>T	ENSP00000419892.2:p.Leu167Phe
ENST00000644099.1:c.343C>T	ENSP00000494762.1:n.343C>T
ENST00000295911.6:c.123C>T	ENSP00000295911.2:p.Ala41=
ENST00000327047.5:c.351C>T	ENSP00000322280.1:p.Ala117=
ENST00000328863.8:c.351C>T	ENSP00000329158.4:p.Ala117=
ENST00000468836.1:c.123C>T	ENSP00000419892.1:p.Ala41=
ENST00000472224.1:n.357C>T
ENST00000485607.1:c.15C>T	ENSP00000419244.1:p.Ala5=
ENST00000562308.5:c.22C>T
ENST00000565169.1:c.80C>T
ENST00000569170.5:c.80C>T
NM_001195794.1:c.351C>T , LRG_700t1:c.351C>T	NP_001182723.1:p.Ala117=
NM_001256819.1:c.523C>T	NP_001243748.1:p.Leu175Phe
NM_052995.2:c.123C>T , LRG_700t2:c.123C>T	NP_443721.1:p.Ala41=
NM_174878.2:c.351C>T	NP_777367.1:p.Ala117=
NR_046380.2:n.793C>T
XR_924167.1:n.663C>T
NM_001256819.2:c.523C>T	NP_001243748.1:p.Leu175Phe
NM_174878.3:c.351C>T MANE Select	NP_777367.1:p.Ala117=
NR_046380.3:n.521C>T