Canonical Allele Identifier: CA1748892763

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339275C= , CM000669.2:g.143339275C=	GRCh38
NC_000007.13:g.143036368C= , CM000669.1:g.143036368C=	GRCh37
NC_000007.12:g.142746490C=	NCBI36
NG_009815.1:g.28150C=
NG_009815.2:g.28150C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1424C=	ENSP00000498052.2:p.Thr475=
ENST00000343257.7:c.1424C= MANE Select	ENSP00000339867.2:p.Thr475=
ENST00000432192.6:c.1248C=
ENST00000343257.6:c.1424C=	ENSP00000339867.2:p.Thr475=
NM_000083.2:c.1424C=	NP_000074.2:p.Thr475=
NR_046453.1:n.1364C=
XM_011515781.1:c.1448C=	XP_011514083.1:p.Thr483=
XM_011515782.1:c.170C=	XP_011514084.1:p.Thr57=
XM_011515782.2:c.170C=	XP_011514084.1:p.Thr57=
XM_017011739.1:c.998C=	XP_016867228.1:p.Thr333=
XM_017011740.1:c.974C=	XP_016867229.1:p.Thr325=
NM_000083.3:c.1424C= MANE Select	NP_000074.3:p.Thr475=
NR_046453.2:n.1379C=