Canonical Allele Identifier: CA4537462

Gene: CLCN1

Linked Data

• dbSNP Id: rs757983792
• ExAC: 7:143039193 A / G
• gnomAD v2: 7-143039193-A-G
• gnomAD v4: 7-143342100-A-G
• MyVariant Identifiers: chr7:g.143039193A>G (hg19) ; chr7:g.143342100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342100A>G , CM000669.2:g.143342100A>G	GRCh38
NC_000007.13:g.143039193A>G , CM000669.1:g.143039193A>G	GRCh37
NC_000007.12:g.142749315A>G	NCBI36
NG_009815.1:g.30975A>G
NG_009815.2:g.30975A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1754A>G	ENSP00000498052.2:p.Lys585Arg
ENST00000343257.7:c.1754A>G MANE Select	ENSP00000339867.2:p.Lys585Arg
ENST00000432192.6:c.1578A>G
ENST00000343257.6:c.1754A>G	ENSP00000339867.2:p.Lys585Arg
NM_000083.2:c.1754A>G	NP_000074.2:p.Lys585Arg
NR_046453.1:n.1694A>G
XM_011515781.1:c.1778A>G	XP_011514083.1:p.Lys593Arg
XM_011515782.1:c.500A>G	XP_011514084.1:p.Lys167Arg
XM_011515782.2:c.500A>G	XP_011514084.1:p.Lys167Arg
XM_017011739.1:c.1328A>G	XP_016867228.1:p.Lys443Arg
XM_017011740.1:c.1304A>G	XP_016867229.1:p.Lys435Arg
NM_000083.3:c.1754A>G MANE Select	NP_000074.3:p.Lys585Arg
NR_046453.2:n.1709A>G