Canonical Allele Identifier: CA168221722

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2169816
• ClinVar RCV Id: RCV003085023 ; RCV003143489
• dbSNP Id: rs143825889
• gnomAD v3: 7-143342073-C-G
• gnomAD v4: 7-143342073-C-G
• COSMIC: COSM1312780
• MyVariant Identifiers: chr7:g.143039166C>G (hg19) ; chr7:g.143342073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342073C>G , CM000669.2:g.143342073C>G	GRCh38
NC_000007.13:g.143039166C>G , CM000669.1:g.143039166C>G	GRCh37
NC_000007.12:g.142749288C>G	NCBI36
NG_009815.1:g.30948C>G
NG_009815.2:g.30948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1727C>G	ENSP00000498052.2:p.Ser576Cys
ENST00000343257.7:c.1727C>G MANE Select	ENSP00000339867.2:p.Ser576Cys
ENST00000432192.6:c.1551C>G
ENST00000343257.6:c.1727C>G	ENSP00000339867.2:p.Ser576Cys
NM_000083.2:c.1727C>G	NP_000074.2:p.Ser576Cys
NR_046453.1:n.1667C>G
XM_011515781.1:c.1751C>G	XP_011514083.1:p.Ser584Cys
XM_011515782.1:c.473C>G	XP_011514084.1:p.Ser158Cys
XM_011515782.2:c.473C>G	XP_011514084.1:p.Ser158Cys
XM_017011739.1:c.1301C>G	XP_016867228.1:p.Ser434Cys
XM_017011740.1:c.1277C>G	XP_016867229.1:p.Ser426Cys
NM_000083.3:c.1727C>G MANE Select	NP_000074.3:p.Ser576Cys
NR_046453.2:n.1682C>G