Canonical Allele Identifier: CA258024

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17542
• ClinVar RCV Id: RCV000516960 ; RCV000626585 ; RCV000763169 ; RCV000019094 ; RCV000020121 ; RCV000019095
• dbSNP Id: rs80356702
• ExAC: 7:143027961 G / A
• gnomAD v3: 7-143330868-G-A
• gnomAD v4: 7-143330868-G-A
• MyVariant Identifiers: chr7:g.143027961G>A (hg19) ; chr7:g.143330868G>A (hg38)
• PubMed: PMID:8533761 ; PMID:8845168 ; PMID:10737121 ; PMID:12163078 ; PMID:20301529 ; PMID:25749817

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330868G>A , CM000669.2:g.143330868G>A	GRCh38
NC_000007.13:g.143027961G>A , CM000669.1:g.143027961G>A	GRCh37
NC_000007.12:g.142738083G>A	NCBI36
NG_009815.1:g.19743G>A
NG_009815.2:g.19743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.950G>A	ENSP00000498052.2:p.Arg317Gln
ENST00000343257.7:c.950G>A MANE Select	ENSP00000339867.2:p.Arg317Gln
ENST00000432192.6:c.774G>A
ENST00000455478.6:c.538G>A	ENSP00000400027.2:n.538G>A
ENST00000650516.1:c.950G>A	ENSP00000498052.1:p.Arg317Gln
ENST00000343257.6:c.950G>A	ENSP00000339867.2:p.Arg317Gln
ENST00000432192.5:c.464G>A
ENST00000455478.5:c.542G>A
ENST00000495612.1:n.251G>A
NM_000083.2:c.950G>A	NP_000074.2:p.Arg317Gln
NR_046453.1:n.1040G>A
XM_011515781.1:c.950G>A	XP_011514083.1:p.Arg317Gln
XM_017011739.1:c.500G>A	XP_016867228.1:p.Arg167Gln
XM_017011740.1:c.500G>A	XP_016867229.1:p.Arg167Gln
NM_000083.3:c.950G>A MANE Select	NP_000074.3:p.Arg317Gln
NR_046453.2:n.1055G>A