Canonical Allele Identifier: CA4537025

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 420147
• ClinVar RCV Id: RCV000487022 ; RCV000803459
• dbSNP Id: rs189963844
• ExAC: 7:143018897 G / A
• gnomAD v2: 7-143018897-G-A
• gnomAD v3: 7-143321804-G-A
• gnomAD v4: 7-143321804-G-A
• COSMIC: COSM3698236
• MyVariant Identifiers: chr7:g.143018897G>A (hg19) ; chr7:g.143321804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321804G>A , CM000669.2:g.143321804G>A	GRCh38
NC_000007.13:g.143018897G>A , CM000669.1:g.143018897G>A	GRCh37
NC_000007.12:g.142729019G>A	NCBI36
NG_009815.1:g.10679G>A
NG_009815.2:g.10679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.652G>A	ENSP00000498052.2:p.Ala218Thr
ENST00000343257.7:c.652G>A MANE Select	ENSP00000339867.2:p.Ala218Thr
ENST00000432192.6:c.420G>A
ENST00000455478.6:c.106G>A	ENSP00000400027.2:p.Ala36Thr
ENST00000650516.1:c.652G>A	ENSP00000498052.1:p.Ala218Thr
ENST00000343257.6:c.652G>A	ENSP00000339867.2:p.Ala218Thr
ENST00000432192.5:c.110G>A
ENST00000455478.5:c.110G>A
ENST00000495612.1:n.110G>A
NM_000083.2:c.652G>A	NP_000074.2:p.Ala218Thr
NR_046453.1:n.739G>A
XM_011515781.1:c.652G>A	XP_011514083.1:p.Ala218Thr
XM_017011739.1:c.359G>A	XP_016867228.1:p.Arg120His
XM_017011740.1:c.359G>A	XP_016867229.1:p.Arg120His
NM_000083.3:c.652G>A MANE Select	NP_000074.3:p.Ala218Thr
NR_046453.2:n.754G>A