Canonical Allele Identifier: CA369687538

Gene: CLCN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324450T>C , CM000669.2:g.143324450T>C	GRCh38
NC_000007.13:g.143021543T>C , CM000669.1:g.143021543T>C	GRCh37
NC_000007.12:g.142731665T>C	NCBI36
NG_009815.1:g.13325T>C
NG_009815.2:g.13325T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+553T>C	ENSP00000498052.2:n.853+553T>C
ENST00000343257.7:c.811T>C MANE Select	ENSP00000339867.2:p.Cys271Arg
ENST00000432192.6:c.635T>C
ENST00000455478.6:c.399T>C	ENSP00000400027.2:n.399T>C
ENST00000650516.1:c.853+553T>C	ENSP00000498052.1:n.853+553T>C
ENST00000343257.6:c.811T>C	ENSP00000339867.2:p.Cys271Arg
ENST00000432192.5:c.325T>C
ENST00000455478.5:c.403T>C
ENST00000495612.1:n.154+2602T>C
NM_000083.2:c.811T>C	NP_000074.2:p.Cys271Arg
NR_046453.1:n.901T>C
XM_011515781.1:c.853+553T>C	XP_011514083.1:n.853+553T>C
XM_017011739.1:c.403+2602T>C	XP_016867228.1:n.403+2602T>C
XM_017011740.1:c.403+2602T>C	XP_016867229.1:n.403+2602T>C
NM_000083.3:c.811T>C MANE Select	NP_000074.3:p.Cys271Arg
NR_046453.2:n.916T>C