Canonical Allele Identifier: CA1748898351

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351825G= , CM000669.2:g.143351825G=	GRCh38
NC_000007.13:g.143048918G= , CM000669.1:g.143048918G=	GRCh37
NC_000007.12:g.142759040G=	NCBI36
NG_009815.1:g.40700G=
NG_009815.2:g.40700G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2827G=	ENSP00000498052.2:p.Ala943=
ENST00000343257.7:c.2827G= MANE Select	ENSP00000339867.2:p.Ala943=
ENST00000343257.6:c.2827G=	ENSP00000339867.2:p.Ala943=
NM_000083.2:c.2827G=	NP_000074.2:p.Ala943=
NR_046453.1:n.2767G=
XM_011515781.1:c.2851G=	XP_011514083.1:p.Ala951=
XM_011515782.1:c.1573G=	XP_011514084.1:p.Ala525=
XM_011515782.2:c.1573G=	XP_011514084.1:p.Ala525=
XM_017011739.1:c.2401G=	XP_016867228.1:p.Ala801=
XM_017011740.1:c.2377G=	XP_016867229.1:p.Ala793=
NM_000083.3:c.2827G= MANE Select	NP_000074.3:p.Ala943=
NR_046453.2:n.2782G=