Canonical Allele Identifier: CA369641653

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 638963
• ClinVar RCV Id: RCV000791647
• dbSNP Id: rs1586496817
• MyVariant Identifiers: chr7:g.143027943T>G (hg19) ; chr7:g.143330850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330850T>G , CM000669.2:g.143330850T>G	GRCh38
NC_000007.13:g.143027943T>G , CM000669.1:g.143027943T>G	GRCh37
NC_000007.12:g.142738065T>G	NCBI36
NG_009815.1:g.19725T>G
NG_009815.2:g.19725T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.932T>G	ENSP00000498052.2:p.Phe311Cys
ENST00000343257.7:c.932T>G MANE Select	ENSP00000339867.2:p.Phe311Cys
ENST00000432192.6:c.756T>G
ENST00000455478.6:c.520T>G	ENSP00000400027.2:n.520T>G
ENST00000650516.1:c.932T>G	ENSP00000498052.1:p.Phe311Cys
ENST00000343257.6:c.932T>G	ENSP00000339867.2:p.Phe311Cys
ENST00000432192.5:c.446T>G
ENST00000455478.5:c.524T>G
ENST00000495612.1:n.233T>G
NM_000083.2:c.932T>G	NP_000074.2:p.Phe311Cys
NR_046453.1:n.1022T>G
XM_011515781.1:c.932T>G	XP_011514083.1:p.Phe311Cys
XM_017011739.1:c.482T>G	XP_016867228.1:p.Phe161Cys
XM_017011740.1:c.482T>G	XP_016867229.1:p.Phe161Cys
NM_000083.3:c.932T>G MANE Select	NP_000074.3:p.Phe311Cys
NR_046453.2:n.1037T>G