Canonical Allele Identifier: CA369646427

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143341971-C-T
• MyVariant Identifiers: chr7:g.143039064C>T (hg19) ; chr7:g.143341971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341971C>T , CM000669.2:g.143341971C>T	GRCh38
NC_000007.13:g.143039064C>T , CM000669.1:g.143039064C>T	GRCh37
NC_000007.12:g.142749186C>T	NCBI36
NG_009815.1:g.30846C>T
NG_009815.2:g.30846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1625C>T	ENSP00000498052.2:p.Thr542Ile
ENST00000343257.7:c.1625C>T MANE Select	ENSP00000339867.2:p.Thr542Ile
ENST00000432192.6:c.1449C>T
ENST00000343257.6:c.1625C>T	ENSP00000339867.2:p.Thr542Ile
NM_000083.2:c.1625C>T	NP_000074.2:p.Thr542Ile
NR_046453.1:n.1565C>T
XM_011515781.1:c.1649C>T	XP_011514083.1:p.Thr550Ile
XM_011515782.1:c.371C>T	XP_011514084.1:p.Thr124Ile
XM_011515782.2:c.371C>T	XP_011514084.1:p.Thr124Ile
XM_017011739.1:c.1199C>T	XP_016867228.1:p.Thr400Ile
XM_017011740.1:c.1175C>T	XP_016867229.1:p.Thr392Ile
NM_000083.3:c.1625C>T MANE Select	NP_000074.3:p.Thr542Ile
NR_046453.2:n.1580C>T