Canonical Allele Identifier: CA1748884242

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324464C= , CM000669.2:g.143324464C=	GRCh38
NC_000007.13:g.143021557C= , CM000669.1:g.143021557C=	GRCh37
NC_000007.12:g.142731679C=	NCBI36
NG_009815.1:g.13339C=
NG_009815.2:g.13339C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+567C=	ENSP00000498052.2:n.853+567C=
ENST00000343257.7:c.825C= MANE Select	ENSP00000339867.2:p.Val275=
ENST00000432192.6:c.649C=
ENST00000455478.6:c.413C=	ENSP00000400027.2:n.413C=
ENST00000650516.1:c.853+567C=	ENSP00000498052.1:n.853+567C=
ENST00000343257.6:c.825C=	ENSP00000339867.2:p.Val275=
ENST00000432192.5:c.339C=
ENST00000455478.5:c.417C=
ENST00000495612.1:n.154+2616C=
NM_000083.2:c.825C=	NP_000074.2:p.Val275=
NR_046453.1:n.915C=
XM_011515781.1:c.853+567C=	XP_011514083.1:n.853+567C=
XM_017011739.1:c.403+2616C=	XP_016867228.1:n.403+2616C=
XM_017011740.1:c.403+2616C=	XP_016867229.1:n.403+2616C=
NM_000083.3:c.825C= MANE Select	NP_000074.3:p.Val275=
NR_046453.2:n.930C=