Canonical Allele Identifier: CA4537170

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 531747
• ClinVar RCV Id: RCV000638241 ; RCV000761298 ; RCV000991830 ; RCV002267619
• dbSNP Id: rs764100025
• ExAC: 7:143027903 G / A
• gnomAD v2: 7-143027903-G-A
• gnomAD v4: 7-143330810-G-A
• MyVariant Identifiers: chr7:g.143027903G>A (hg19) ; chr7:g.143330810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330810G>A , CM000669.2:g.143330810G>A	GRCh38
NC_000007.13:g.143027903G>A , CM000669.1:g.143027903G>A	GRCh37
NC_000007.12:g.142738025G>A	NCBI36
NG_009815.1:g.19685G>A
NG_009815.2:g.19685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.892G>A	ENSP00000498052.2:p.Ala298Thr
ENST00000343257.7:c.892G>A MANE Select	ENSP00000339867.2:p.Ala298Thr
ENST00000432192.6:c.716G>A
ENST00000455478.6:c.480G>A	ENSP00000400027.2:n.480G>A
ENST00000650516.1:c.892G>A	ENSP00000498052.1:p.Ala298Thr
ENST00000343257.6:c.892G>A	ENSP00000339867.2:p.Ala298Thr
ENST00000432192.5:c.406G>A
ENST00000455478.5:c.484G>A
ENST00000495612.1:n.193G>A
NM_000083.2:c.892G>A	NP_000074.2:p.Ala298Thr
NR_046453.1:n.982G>A
XM_011515781.1:c.892G>A	XP_011514083.1:p.Ala298Thr
XM_017011739.1:c.442G>A	XP_016867228.1:p.Ala148Thr
XM_017011740.1:c.442G>A	XP_016867229.1:p.Ala148Thr
NM_000083.3:c.892G>A MANE Select	NP_000074.3:p.Ala298Thr
NR_046453.2:n.997G>A