Canonical Allele Identifier: CA1748893953

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342035T= , CM000669.2:g.143342035T=	GRCh38
NC_000007.13:g.143039128T= , CM000669.1:g.143039128T=	GRCh37
NC_000007.12:g.142749250T=	NCBI36
NG_009815.1:g.30910T=
NG_009815.2:g.30910T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1689T=	ENSP00000498052.2:p.Val563=
ENST00000343257.7:c.1689T= MANE Select	ENSP00000339867.2:p.Val563=
ENST00000432192.6:c.1513T=
ENST00000343257.6:c.1689T=	ENSP00000339867.2:p.Val563=
NM_000083.2:c.1689T=	NP_000074.2:p.Val563=
NR_046453.1:n.1629T=
XM_011515781.1:c.1713T=	XP_011514083.1:p.Val571=
XM_011515782.1:c.435T=	XP_011514084.1:p.Val145=
XM_011515782.2:c.435T=	XP_011514084.1:p.Val145=
XM_017011739.1:c.1263T=	XP_016867228.1:p.Val421=
XM_017011740.1:c.1239T=	XP_016867229.1:p.Val413=
NM_000083.3:c.1689T= MANE Select	NP_000074.3:p.Val563=
NR_046453.2:n.1644T=