Canonical Allele Identifier: CA369684708

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2440119
• ClinVar RCV Id: RCV003145019
• gnomAD v4: 7-143321784-C-G
• MyVariant Identifiers: chr7:g.143018877C>G (hg19) ; chr7:g.143321784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321784C>G , CM000669.2:g.143321784C>G	GRCh38
NC_000007.13:g.143018877C>G , CM000669.1:g.143018877C>G	GRCh37
NC_000007.12:g.142728999C>G	NCBI36
NG_009815.1:g.10659C>G
NG_009815.2:g.10659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.632C>G	ENSP00000498052.2:p.Ala211Gly
ENST00000343257.7:c.632C>G MANE Select	ENSP00000339867.2:p.Ala211Gly
ENST00000432192.6:c.400C>G
ENST00000455478.6:c.86C>G	ENSP00000400027.2:p.Ala29Gly
ENST00000650516.1:c.632C>G	ENSP00000498052.1:p.Ala211Gly
ENST00000343257.6:c.632C>G	ENSP00000339867.2:p.Ala211Gly
ENST00000432192.5:c.90C>G
ENST00000455478.5:c.90C>G
ENST00000495612.1:n.90C>G
NM_000083.2:c.632C>G	NP_000074.2:p.Ala211Gly
NR_046453.1:n.719C>G
XM_011515781.1:c.632C>G	XP_011514083.1:p.Ala211Gly
XM_017011739.1:c.339C>G	XP_016867228.1:p.Ser113Arg
XM_017011740.1:c.339C>G	XP_016867229.1:p.Ser113Arg
NM_000083.3:c.632C>G MANE Select	NP_000074.3:p.Ala211Gly
NR_046453.2:n.734C>G