Canonical Allele Identifier: CA4536969

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1397806
• ClinVar RCV Id: RCV001922414
• dbSNP Id: rs759966057
• ExAC: 7:143018521 C / G
• MyVariant Identifiers: chr7:g.143018521C>G (hg19) ; chr7:g.143321428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321428C>G , CM000669.2:g.143321428C>G	GRCh38
NC_000007.13:g.143018521C>G , CM000669.1:g.143018521C>G	GRCh37
NC_000007.12:g.142728643C>G	NCBI36
NG_009815.1:g.10303C>G
NG_009815.2:g.10303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.497C>G	ENSP00000498052.2:p.Thr166Ser
ENST00000343257.7:c.497C>G MANE Select	ENSP00000339867.2:p.Thr166Ser
ENST00000432192.6:c.265C>G
ENST00000650516.1:c.497C>G	ENSP00000498052.1:p.Thr166Ser
ENST00000343257.6:c.497C>G	ENSP00000339867.2:p.Thr166Ser
NM_000083.2:c.497C>G	NP_000074.2:p.Thr166Ser
NR_046453.1:n.584C>G
XM_011515781.1:c.497C>G	XP_011514083.1:p.Thr166Ser
XM_017011739.1:c.204C>G	XP_016867228.1:p.His68Gln
XM_017011740.1:c.204C>G	XP_016867229.1:p.His68Gln
NM_000083.3:c.497C>G MANE Select	NP_000074.3:p.Thr166Ser
NR_046453.2:n.599C>G