Canonical Allele Identifier: CA458542451

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2939745
• ClinVar RCV Id: RCV003794911
• dbSNP Id: rs760793323
• MyVariant Identifiers: chr7:g.143048938C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351845C>A , CM000669.2:g.143351845C>A	GRCh38
NC_000007.13:g.143048938C>A , CM000669.1:g.143048938C>A	GRCh37
NC_000007.12:g.142759060C>A	NCBI36
NG_009815.1:g.40720C>A
NG_009815.2:g.40720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2847C>A	ENSP00000498052.2:p.Gly949=
ENST00000343257.7:c.2847C>A MANE Select	ENSP00000339867.2:p.Gly949=
ENST00000343257.6:c.2847C>A	ENSP00000339867.2:p.Gly949=
NM_000083.2:c.2847C>A	NP_000074.2:p.Gly949=
NR_046453.1:n.2787C>A
XM_011515781.1:c.2871C>A	XP_011514083.1:p.Gly957=
XM_011515782.1:c.1593C>A	XP_011514084.1:p.Gly531=
XM_011515782.2:c.1593C>A	XP_011514084.1:p.Gly531=
XM_017011739.1:c.2421C>A	XP_016867228.1:p.Gly807=
XM_017011740.1:c.2397C>A	XP_016867229.1:p.Gly799=
NM_000083.3:c.2847C>A MANE Select	NP_000074.3:p.Gly949=
NR_046453.2:n.2802C>A