Canonical Allele Identifier: CA1748898343

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351810C= , CM000669.2:g.143351810C=	GRCh38
NC_000007.13:g.143048903C= , CM000669.1:g.143048903C=	GRCh37
NC_000007.12:g.142759025C=	NCBI36
NG_009815.1:g.40685C=
NG_009815.2:g.40685C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2812C=	ENSP00000498052.2:p.Pro938=
ENST00000343257.7:c.2812C= MANE Select	ENSP00000339867.2:p.Pro938=
ENST00000343257.6:c.2812C=	ENSP00000339867.2:p.Pro938=
NM_000083.2:c.2812C=	NP_000074.2:p.Pro938=
NR_046453.1:n.2752C=
XM_011515781.1:c.2836C=	XP_011514083.1:p.Pro946=
XM_011515782.1:c.1558C=	XP_011514084.1:p.Pro520=
XM_011515782.2:c.1558C=	XP_011514084.1:p.Pro520=
XM_017011739.1:c.2386C=	XP_016867228.1:p.Pro796=
XM_017011740.1:c.2362C=	XP_016867229.1:p.Pro788=
NM_000083.3:c.2812C= MANE Select	NP_000074.3:p.Pro938=
NR_046453.2:n.2767C=