Canonical Allele Identifier: CA369684429

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321747-C-G
• MyVariant Identifiers: chr7:g.143018840C>G (hg19) ; chr7:g.143321747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321747C>G , CM000669.2:g.143321747C>G	GRCh38
NC_000007.13:g.143018840C>G , CM000669.1:g.143018840C>G	GRCh37
NC_000007.12:g.142728962C>G	NCBI36
NG_009815.1:g.10622C>G
NG_009815.2:g.10622C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.595C>G	ENSP00000498052.2:p.Arg199Gly
ENST00000343257.7:c.595C>G MANE Select	ENSP00000339867.2:p.Arg199Gly
ENST00000432192.6:c.363C>G
ENST00000455478.6:c.49C>G	ENSP00000400027.2:p.Arg17Gly
ENST00000650516.1:c.595C>G	ENSP00000498052.1:p.Arg199Gly
ENST00000343257.6:c.595C>G	ENSP00000339867.2:p.Arg199Gly
ENST00000432192.5:c.53C>G
ENST00000455478.5:c.53C>G
ENST00000495612.1:n.53C>G
NM_000083.2:c.595C>G	NP_000074.2:p.Arg199Gly
NR_046453.1:n.682C>G
XM_011515781.1:c.595C>G	XP_011514083.1:p.Arg199Gly
XM_017011739.1:c.302C>G	XP_016867228.1:p.Ser101Trp
XM_017011740.1:c.302C>G	XP_016867229.1:p.Ser101Trp
NM_000083.3:c.595C>G MANE Select	NP_000074.3:p.Arg199Gly
NR_046453.2:n.697C>G