Canonical Allele Identifier: CA458542342

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048755G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351662G>T , CM000669.2:g.143351662G>T	GRCh38
NC_000007.13:g.143048755G>T , CM000669.1:g.143048755G>T	GRCh37
NC_000007.12:g.142758877G>T	NCBI36
NG_009815.1:g.40537G>T
NG_009815.2:g.40537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2664G>T	ENSP00000498052.2:p.Arg888=
ENST00000343257.7:c.2664G>T MANE Select	ENSP00000339867.2:p.Arg888=
ENST00000432192.6:c.2488G>T
ENST00000343257.6:c.2664G>T	ENSP00000339867.2:p.Arg888=
NM_000083.2:c.2664G>T	NP_000074.2:p.Arg888=
NR_046453.1:n.2604G>T
XM_011515781.1:c.2688G>T	XP_011514083.1:p.Arg896=
XM_011515782.1:c.1410G>T	XP_011514084.1:p.Arg470=
XM_011515782.2:c.1410G>T	XP_011514084.1:p.Arg470=
XM_017011739.1:c.2238G>T	XP_016867228.1:p.Arg746=
XM_017011740.1:c.2214G>T	XP_016867229.1:p.Arg738=
NM_000083.3:c.2664G>T MANE Select	NP_000074.3:p.Arg888=
NR_046453.2:n.2619G>T