Canonical Allele Identifier: CA1748898316

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351759G= , CM000669.2:g.143351759G=	GRCh38
NC_000007.13:g.143048852G= , CM000669.1:g.143048852G=	GRCh37
NC_000007.12:g.142758974G=	NCBI36
NG_009815.1:g.40634G=
NG_009815.2:g.40634G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2761G=	ENSP00000498052.2:p.Asp921=
ENST00000343257.7:c.2761G= MANE Select	ENSP00000339867.2:p.Asp921=
ENST00000343257.6:c.2761G=	ENSP00000339867.2:p.Asp921=
NM_000083.2:c.2761G=	NP_000074.2:p.Asp921=
NR_046453.1:n.2701G=
XM_011515781.1:c.2785G=	XP_011514083.1:p.Asp929=
XM_011515782.1:c.1507G=	XP_011514084.1:p.Asp503=
XM_011515782.2:c.1507G=	XP_011514084.1:p.Asp503=
XM_017011739.1:c.2335G=	XP_016867228.1:p.Asp779=
XM_017011740.1:c.2311G=	XP_016867229.1:p.Asp771=
NM_000083.3:c.2761G= MANE Select	NP_000074.3:p.Asp921=
NR_046453.2:n.2716G=