Canonical Allele Identifier: CA258012

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17532
• ClinVar RCV Id: RCV000019084 ; RCV000020113 ; RCV000291823 ; RCV000627758 ; RCV004532391 ; RCV003317041
• dbSNP Id: rs80356700
• ExAC: 7:143018934 G / A
• gnomAD v2: 7-143018934-G-A
• gnomAD v3: 7-143321841-G-A
• gnomAD v4: 7-143321841-G-A
• MyVariant Identifiers: chr7:g.143018934G>A (hg19) ; chr7:g.143321841G>A (hg38)
• PubMed: PMID:7981750 ; PMID:8112288 ; PMID:8857727 ; PMID:8857733 ; PMID:9122265 ; PMID:10533075 ; PMID:20301529

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321841G>A , CM000669.2:g.143321841G>A	GRCh38
NC_000007.13:g.143018934G>A , CM000669.1:g.143018934G>A	GRCh37
NC_000007.12:g.142729056G>A	NCBI36
NG_009815.1:g.10716G>A
NG_009815.2:g.10716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.689G>A	ENSP00000498052.2:p.Gly230Glu
ENST00000343257.7:c.689G>A MANE Select	ENSP00000339867.2:p.Gly230Glu
ENST00000432192.6:c.457G>A
ENST00000455478.6:c.143G>A	ENSP00000400027.2:p.Gly48Glu
ENST00000650516.1:c.689G>A	ENSP00000498052.1:p.Gly230Glu
ENST00000343257.6:c.689G>A	ENSP00000339867.2:p.Gly230Glu
ENST00000432192.5:c.147G>A
ENST00000455478.5:c.147G>A
ENST00000495612.1:n.147G>A
NM_000083.2:c.689G>A	NP_000074.2:p.Gly230Glu
NR_046453.1:n.776G>A
XM_011515781.1:c.689G>A	XP_011514083.1:p.Gly230Glu
XM_017011739.1:c.396G>A	XP_016867228.1:p.Gly132=
XM_017011740.1:c.396G>A	XP_016867229.1:p.Gly132=
NM_000083.3:c.689G>A MANE Select	NP_000074.3:p.Gly230Glu
NR_046453.2:n.791G>A