Canonical Allele Identifier: CA275467

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350637G>A , CM000669.2:g.143350637G>A	GRCh38
NC_000007.13:g.143047730G>A , CM000669.1:g.143047730G>A	GRCh37
NC_000007.12:g.142757852G>A	NCBI36
NG_009815.1:g.39512G>A
NG_009815.2:g.39512G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2578G>A MANE Select	NP_000074.3:p.Val860Ile
ENST00000343257.7:c.2578G>A MANE Select	ENSP00000339867.2:p.Val860Ile
NM_000083.2:c.2578G>A	NP_000074.2:p.Val860Ile
NR_046453.1:n.2518G>A
NR_046453.2:n.2533G>A
ENST00000343257.6:c.2578G>A	ENSP00000339867.2:p.Val860Ile
ENST00000432192.6:c.2402G>A
ENST00000650516.2:c.2578G>A	ENSP00000498052.2:p.Val860Ile
XM_011515781.1:c.2602G>A	XP_011514083.1:p.Val868Ile
XM_011515782.1:c.1324G>A	XP_011514084.1:p.Val442Ile
XM_011515782.2:c.1324G>A	XP_011514084.1:p.Val442Ile
XM_017011739.1:c.2152G>A	XP_016867228.1:p.Val718Ile
XM_017011740.1:c.2128G>A	XP_016867229.1:p.Val710Ile