Canonical Allele Identifier: CA1748883119

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323322A= , CM000669.2:g.143323322A=	GRCh38
NC_000007.13:g.143020415A= , CM000669.1:g.143020415A=	GRCh37
NC_000007.12:g.142730537A=	NCBI36
NG_009815.1:g.12197A=
NG_009815.2:g.12197A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.710A=	ENSP00000498052.2:p.His237=
ENST00000343257.7:c.710A= MANE Select	ENSP00000339867.2:p.His237=
ENST00000432192.6:c.465-251A=
ENST00000455478.6:c.164A=	ENSP00000400027.2:p.His55=
ENST00000650516.1:c.710A=	ENSP00000498052.1:p.His237=
ENST00000343257.6:c.710A=	ENSP00000339867.2:p.His237=
ENST00000432192.5:c.155-251A=
ENST00000455478.5:c.168A=
ENST00000495612.1:n.154+1474A=
NM_000083.2:c.710A=	NP_000074.2:p.His237=
NR_046453.1:n.797A=
XM_011515781.1:c.710A=	XP_011514083.1:p.His237=
XM_017011739.1:c.403+1474A=	XP_016867228.1:n.403+1474A=
XM_017011740.1:c.403+1474A=	XP_016867229.1:n.403+1474A=
NM_000083.3:c.710A= MANE Select	NP_000074.3:p.His237=
NR_046453.2:n.812A=