Canonical Allele Identifier: CA1748881875

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321832T= , CM000669.2:g.143321832T=	GRCh38
NC_000007.13:g.143018925T= , CM000669.1:g.143018925T=	GRCh37
NC_000007.12:g.142729047T=	NCBI36
NG_009815.1:g.10707T=
NG_009815.2:g.10707T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.680T=	ENSP00000498052.2:p.Ile227=
ENST00000343257.7:c.680T= MANE Select	ENSP00000339867.2:p.Ile227=
ENST00000432192.6:c.448T=
ENST00000455478.6:c.134T=	ENSP00000400027.2:p.Ile45=
ENST00000650516.1:c.680T=	ENSP00000498052.1:p.Ile227=
ENST00000343257.6:c.680T=	ENSP00000339867.2:p.Ile227=
ENST00000432192.5:c.138T=
ENST00000455478.5:c.138T=
ENST00000495612.1:n.138T=
NM_000083.2:c.680T=	NP_000074.2:p.Ile227=
NR_046453.1:n.767T=
XM_011515781.1:c.680T=	XP_011514083.1:p.Ile227=
XM_017011739.1:c.387T=	XP_016867228.1:p.His129=
XM_017011740.1:c.387T=	XP_016867229.1:p.His129=
NM_000083.3:c.680T= MANE Select	NP_000074.3:p.Ile227=
NR_046453.2:n.782T=