Canonical Allele Identifier: CA458542424

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 995343
• ClinVar RCV Id: RCV001289383
• dbSNP Id: rs1803411706
• gnomAD v4: 7-143351692-G-T
• MyVariant Identifiers: chr7:g.143048785G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351692G>T , CM000669.2:g.143351692G>T	GRCh38
NC_000007.13:g.143048785G>T , CM000669.1:g.143048785G>T	GRCh37
NC_000007.12:g.142758907G>T	NCBI36
NG_009815.1:g.40567G>T
NG_009815.2:g.40567G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2694G>T	ENSP00000498052.2:p.Gly898=
ENST00000343257.7:c.2694G>T MANE Select	ENSP00000339867.2:p.Gly898=
ENST00000432192.6:c.2518G>T
ENST00000343257.6:c.2694G>T	ENSP00000339867.2:p.Gly898=
NM_000083.2:c.2694G>T	NP_000074.2:p.Gly898=
NR_046453.1:n.2634G>T
XM_011515781.1:c.2718G>T	XP_011514083.1:p.Gly906=
XM_011515782.1:c.1440G>T	XP_011514084.1:p.Gly480=
XM_011515782.2:c.1440G>T	XP_011514084.1:p.Gly480=
XM_017011739.1:c.2268G>T	XP_016867228.1:p.Gly756=
XM_017011740.1:c.2244G>T	XP_016867229.1:p.Gly748=
NM_000083.3:c.2694G>T MANE Select	NP_000074.3:p.Gly898=
NR_046453.2:n.2649G>T