Canonical Allele Identifier: CA168256462

Gene: CLCN1

Linked Data

• dbSNP Id: rs868784999
• COSMIC: COSM4556523
• MyVariant Identifiers: chr7:g.143018939G>A (hg19) ; chr7:g.143321846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321846G>A , CM000669.2:g.143321846G>A	GRCh38
NC_000007.13:g.143018939G>A , CM000669.1:g.143018939G>A	GRCh37
NC_000007.12:g.142729061G>A	NCBI36
NG_009815.1:g.10721G>A
NG_009815.2:g.10721G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.694G>A	ENSP00000498052.2:p.Glu232Lys
ENST00000343257.7:c.694G>A MANE Select	ENSP00000339867.2:p.Glu232Lys
ENST00000432192.6:c.462G>A
ENST00000455478.6:c.148G>A	ENSP00000400027.2:p.Glu50Lys
ENST00000650516.1:c.694G>A	ENSP00000498052.1:p.Glu232Lys
ENST00000343257.6:c.694G>A	ENSP00000339867.2:p.Glu232Lys
ENST00000432192.5:c.152G>A
ENST00000455478.5:c.152G>A
ENST00000495612.1:n.152G>A
NM_000083.2:c.694G>A	NP_000074.2:p.Glu232Lys
NR_046453.1:n.781G>A
XM_011515781.1:c.694G>A	XP_011514083.1:p.Glu232Lys
XM_017011739.1:c.401G>A	XP_016867228.1:p.Arg134Lys
XM_017011740.1:c.401G>A	XP_016867229.1:p.Arg134Lys
NM_000083.3:c.694G>A MANE Select	NP_000074.3:p.Glu232Lys
NR_046453.2:n.796G>A