Canonical Allele Identifier: CA2740094897

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2935949
• ClinVar RCV Id: RCV003794043

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321868A>C , CM000669.2:g.143321868A>C	GRCh38
NC_000007.13:g.143018961A>C , CM000669.1:g.143018961A>C	GRCh37
NC_000007.12:g.142729083A>C	NCBI36
NG_009815.1:g.10743A>C
NG_009815.2:g.10743A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+20A>C	ENSP00000498052.2:n.696+20A>C
ENST00000343257.7:c.696+20A>C MANE Select	ENSP00000339867.2:n.696+20A>C
ENST00000432192.6:c.464+20A>C
ENST00000455478.6:c.150+20A>C	ENSP00000400027.2:n.150+20A>C
ENST00000650516.1:c.696+20A>C	ENSP00000498052.1:n.696+20A>C
ENST00000343257.6:c.696+20A>C	ENSP00000339867.2:n.696+20A>C
ENST00000432192.5:c.154+20A>C
ENST00000455478.5:c.154+20A>C
ENST00000495612.1:n.154+20A>C
NM_000083.2:c.696+20A>C	NP_000074.2:n.696+20A>C
NR_046453.1:n.783+20A>C
XM_011515781.1:c.696+20A>C	XP_011514083.1:n.696+20A>C
XM_017011739.1:c.403+20A>C	XP_016867228.1:n.403+20A>C
XM_017011740.1:c.403+20A>C	XP_016867229.1:n.403+20A>C
NM_000083.3:c.696+20A>C MANE Select	NP_000074.3:n.696+20A>C
NR_046453.2:n.798+20A>C