Canonical Allele Identifier: CA4537683

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2936224
• ClinVar RCV Id: RCV003796510
• dbSNP Id: rs200193851
• ExAC: 7:143047470 G / A
• gnomAD v2: 7-143047470-G-A
• gnomAD v3: 7-143350377-G-A
• gnomAD v4: 7-143350377-G-A
• MyVariant Identifiers: chr7:g.143047470G>A (hg19) ; chr7:g.143350377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350377G>A , CM000669.2:g.143350377G>A	GRCh38
NC_000007.13:g.143047470G>A , CM000669.1:g.143047470G>A	GRCh37
NC_000007.12:g.142757592G>A	NCBI36
NG_009815.1:g.39252G>A
NG_009815.2:g.39252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2409G>A	ENSP00000498052.2:p.Glu803=
ENST00000343257.7:c.2409G>A MANE Select	ENSP00000339867.2:p.Glu803=
ENST00000432192.6:c.2233G>A
ENST00000343257.6:c.2409G>A	ENSP00000339867.2:p.Glu803=
NM_000083.2:c.2409G>A	NP_000074.2:p.Glu803=
NR_046453.1:n.2349G>A
XM_011515781.1:c.2433G>A	XP_011514083.1:p.Glu811=
XM_011515782.1:c.1155G>A	XP_011514084.1:p.Glu385=
XM_011515782.2:c.1155G>A	XP_011514084.1:p.Glu385=
XM_017011739.1:c.1983G>A	XP_016867228.1:p.Glu661=
XM_017011740.1:c.1959G>A	XP_016867229.1:p.Glu653=
NM_000083.3:c.2409G>A MANE Select	NP_000074.3:p.Glu803=
NR_046453.2:n.2364G>A