Canonical Allele Identifier: CA1108122218

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802455605
• gnomAD v3: 7-143322098-C-T
• gnomAD v4: 7-143322098-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322098C>T , CM000669.2:g.143322098C>T	GRCh38
NC_000007.13:g.143019191C>T , CM000669.1:g.143019191C>T	GRCh37
NC_000007.12:g.142729313C>T	NCBI36
NG_009815.1:g.10973C>T
NG_009815.2:g.10973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+250C>T	ENSP00000498052.2:n.696+250C>T
ENST00000343257.7:c.696+250C>T MANE Select	ENSP00000339867.2:n.696+250C>T
ENST00000432192.6:c.464+250C>T
ENST00000455478.6:c.150+250C>T	ENSP00000400027.2:n.150+250C>T
ENST00000650516.1:c.696+250C>T	ENSP00000498052.1:n.696+250C>T
ENST00000343257.6:c.696+250C>T	ENSP00000339867.2:n.696+250C>T
ENST00000432192.5:c.154+250C>T
ENST00000455478.5:c.154+250C>T
ENST00000495612.1:n.154+250C>T
NM_000083.2:c.696+250C>T	NP_000074.2:n.696+250C>T
NR_046453.1:n.783+250C>T
XM_011515781.1:c.696+250C>T	XP_011514083.1:n.696+250C>T
XM_017011739.1:c.403+250C>T	XP_016867228.1:n.403+250C>T
XM_017011740.1:c.403+250C>T	XP_016867229.1:n.403+250C>T
NM_000083.3:c.696+250C>T MANE Select	NP_000074.3:n.696+250C>T
NR_046453.2:n.798+250C>T