Canonical Allele Identifier: CA369683505

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321404-C-G
• MyVariant Identifiers: chr7:g.143018497C>G (hg19) ; chr7:g.143321404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321404C>G , CM000669.2:g.143321404C>G	GRCh38
NC_000007.13:g.143018497C>G , CM000669.1:g.143018497C>G	GRCh37
NC_000007.12:g.142728619C>G	NCBI36
NG_009815.1:g.10279C>G
NG_009815.2:g.10279C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.473C>G	ENSP00000498052.2:p.Pro158Arg
ENST00000343257.7:c.473C>G MANE Select	ENSP00000339867.2:p.Pro158Arg
ENST00000432192.6:c.241C>G
ENST00000650516.1:c.473C>G	ENSP00000498052.1:p.Pro158Arg
ENST00000343257.6:c.473C>G	ENSP00000339867.2:p.Pro158Arg
NM_000083.2:c.473C>G	NP_000074.2:p.Pro158Arg
NR_046453.1:n.560C>G
XM_011515781.1:c.473C>G	XP_011514083.1:p.Pro158Arg
XM_017011739.1:c.180C>G	XP_016867228.1:p.Ser60=
XM_017011740.1:c.180C>G	XP_016867229.1:p.Ser60=
NM_000083.3:c.473C>G MANE Select	NP_000074.3:p.Pro158Arg
NR_046453.2:n.575C>G