Canonical Allele Identifier: CA4537127

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 804710
• ClinVar RCV Id: RCV000991829 ; RCV002549768
• dbSNP Id: rs759703560
• ExAC: 7:143021555 G / A
• gnomAD v2: 7-143021555-G-A
• gnomAD v4: 7-143324462-G-A
• MyVariant Identifiers: chr7:g.143021555G>A (hg19) ; chr7:g.143324462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324462G>A , CM000669.2:g.143324462G>A	GRCh38
NC_000007.13:g.143021555G>A , CM000669.1:g.143021555G>A	GRCh37
NC_000007.12:g.142731677G>A	NCBI36
NG_009815.1:g.13337G>A
NG_009815.2:g.13337G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+565G>A	ENSP00000498052.2:n.853+565G>A
ENST00000343257.7:c.823G>A MANE Select	ENSP00000339867.2:p.Val275Ile
ENST00000432192.6:c.647G>A
ENST00000455478.6:c.411G>A	ENSP00000400027.2:n.411G>A
ENST00000650516.1:c.853+565G>A	ENSP00000498052.1:n.853+565G>A
ENST00000343257.6:c.823G>A	ENSP00000339867.2:p.Val275Ile
ENST00000432192.5:c.337G>A
ENST00000455478.5:c.415G>A
ENST00000495612.1:n.154+2614G>A
NM_000083.2:c.823G>A	NP_000074.2:p.Val275Ile
NR_046453.1:n.913G>A
XM_011515781.1:c.853+565G>A	XP_011514083.1:n.853+565G>A
XM_017011739.1:c.403+2614G>A	XP_016867228.1:n.403+2614G>A
XM_017011740.1:c.403+2614G>A	XP_016867229.1:n.403+2614G>A
NM_000083.3:c.823G>A MANE Select	NP_000074.3:p.Val275Ile
NR_046453.2:n.928G>A