Canonical Allele Identifier: CA4536919

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 802378
• ClinVar RCV Id: RCV000987988 ; RCV001519256 ; RCV001528988 ; RCV001579208
• dbSNP Id: rs10282312
• ExAC: 7:143017807 G / T
• gnomAD v2: 7-143017807-G-T
• gnomAD v3: 7-143320714-G-T
• gnomAD v4: 7-143320714-G-T
• MyVariant Identifiers: chr7:g.143017807G>T (hg19) ; chr7:g.143320714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143320714G>T , CM000669.2:g.143320714G>T	GRCh38
NC_000007.13:g.143017807G>T , CM000669.1:g.143017807G>T	GRCh37
NC_000007.12:g.142727929G>T	NCBI36
NG_009815.2:g.9589G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.352G>T	ENSP00000498052.2:p.Gly118Trp
ENST00000343257.7:c.352G>T MANE Select	ENSP00000339867.2:p.Gly118Trp
ENST00000432192.6:c.120G>T
ENST00000650516.1:c.352G>T	ENSP00000498052.1:p.Gly118Trp
ENST00000343257.6:c.352G>T	ENSP00000339867.2:p.Gly118Trp
XM_011515781.1:c.352G>T	XP_011514083.1:p.Gly118Trp
XM_017011739.1:c.59G>T	XP_016867228.1:p.Arg20Leu
XM_017011740.1:c.59G>T	XP_016867229.1:p.Arg20Leu
NM_000083.3:c.352G>T MANE Select	NP_000074.3:p.Gly118Trp
NR_046453.2:n.454G>T