Canonical Allele Identifier: CA1748892765

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339279T= , CM000669.2:g.143339279T=	GRCh38
NC_000007.13:g.143036372T= , CM000669.1:g.143036372T=	GRCh37
NC_000007.12:g.142746494T=	NCBI36
NG_009815.1:g.28154T=
NG_009815.2:g.28154T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1428T=	ENSP00000498052.2:p.Thr476=
ENST00000343257.7:c.1428T= MANE Select	ENSP00000339867.2:p.Thr476=
ENST00000432192.6:c.1252T=
ENST00000343257.6:c.1428T=	ENSP00000339867.2:p.Thr476=
NM_000083.2:c.1428T=	NP_000074.2:p.Thr476=
NR_046453.1:n.1368T=
XM_011515781.1:c.1452T=	XP_011514083.1:p.Thr484=
XM_011515782.1:c.174T=	XP_011514084.1:p.Thr58=
XM_011515782.2:c.174T=	XP_011514084.1:p.Thr58=
XM_017011739.1:c.1002T=	XP_016867228.1:p.Thr334=
XM_017011740.1:c.978T=	XP_016867229.1:p.Thr326=
NM_000083.3:c.1428T= MANE Select	NP_000074.3:p.Thr476=
NR_046453.2:n.1383T=