Canonical Allele Identifier: CA458296140

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021509G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324416G>A , CM000669.2:g.143324416G>A	GRCh38
NC_000007.13:g.143021509G>A , CM000669.1:g.143021509G>A	GRCh37
NC_000007.12:g.142731631G>A	NCBI36
NG_009815.1:g.13291G>A
NG_009815.2:g.13291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+519G>A	ENSP00000498052.2:n.853+519G>A
ENST00000343257.7:c.777G>A MANE Select	ENSP00000339867.2:p.Gln259=
ENST00000432192.6:c.601G>A
ENST00000455478.6:c.365G>A	ENSP00000400027.2:n.365G>A
ENST00000650516.1:c.853+519G>A	ENSP00000498052.1:n.853+519G>A
ENST00000343257.6:c.777G>A	ENSP00000339867.2:p.Gln259=
ENST00000432192.5:c.291G>A
ENST00000455478.5:c.369G>A
ENST00000495612.1:n.154+2568G>A
NM_000083.2:c.777G>A	NP_000074.2:p.Gln259=
NR_046453.1:n.867G>A
XM_011515781.1:c.853+519G>A	XP_011514083.1:n.853+519G>A
XM_017011739.1:c.403+2568G>A	XP_016867228.1:n.403+2568G>A
XM_017011740.1:c.403+2568G>A	XP_016867229.1:n.403+2568G>A
NM_000083.3:c.777G>A MANE Select	NP_000074.3:p.Gln259=
NR_046453.2:n.882G>A