Canonical Allele Identifier: CA1748892757

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339263C= , CM000669.2:g.143339263C=	GRCh38
NC_000007.13:g.143036356C= , CM000669.1:g.143036356C=	GRCh37
NC_000007.12:g.142746478C=	NCBI36
NG_009815.1:g.28138C=
NG_009815.2:g.28138C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1412C=	ENSP00000498052.2:p.Ser471=
ENST00000343257.7:c.1412C= MANE Select	ENSP00000339867.2:p.Ser471=
ENST00000432192.6:c.1236C=
ENST00000343257.6:c.1412C=	ENSP00000339867.2:p.Ser471=
NM_000083.2:c.1412C=	NP_000074.2:p.Ser471=
NR_046453.1:n.1352C=
XM_011515781.1:c.1436C=	XP_011514083.1:p.Ser479=
XM_011515782.1:c.158C=	XP_011514084.1:p.Ser53=
XM_011515782.2:c.158C=	XP_011514084.1:p.Ser53=
XM_017011739.1:c.986C=	XP_016867228.1:p.Ser329=
XM_017011740.1:c.962C=	XP_016867229.1:p.Ser321=
NM_000083.3:c.1412C= MANE Select	NP_000074.3:p.Ser471=
NR_046453.2:n.1367C=