Canonical Allele Identifier: CA369653832

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351796-C-G
• MyVariant Identifiers: chr7:g.143048889C>G (hg19) ; chr7:g.143351796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351796C>G , CM000669.2:g.143351796C>G	GRCh38
NC_000007.13:g.143048889C>G , CM000669.1:g.143048889C>G	GRCh37
NC_000007.12:g.142759011C>G	NCBI36
NG_009815.1:g.40671C>G
NG_009815.2:g.40671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2798C>G	ENSP00000498052.2:p.Ser933Cys
ENST00000343257.7:c.2798C>G MANE Select	ENSP00000339867.2:p.Ser933Cys
ENST00000343257.6:c.2798C>G	ENSP00000339867.2:p.Ser933Cys
NM_000083.2:c.2798C>G	NP_000074.2:p.Ser933Cys
NR_046453.1:n.2738C>G
XM_011515781.1:c.2822C>G	XP_011514083.1:p.Ser941Cys
XM_011515782.1:c.1544C>G	XP_011514084.1:p.Ser515Cys
XM_011515782.2:c.1544C>G	XP_011514084.1:p.Ser515Cys
XM_017011739.1:c.2372C>G	XP_016867228.1:p.Ser791Cys
XM_017011740.1:c.2348C>G	XP_016867229.1:p.Ser783Cys
NM_000083.3:c.2798C>G MANE Select	NP_000074.3:p.Ser933Cys
NR_046453.2:n.2753C>G