Canonical Allele Identifier: CA1748888921

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330838T= , CM000669.2:g.143330838T=	GRCh38
NC_000007.13:g.143027931T= , CM000669.1:g.143027931T=	GRCh37
NC_000007.12:g.142738053T=	NCBI36
NG_009815.1:g.19713T=
NG_009815.2:g.19713T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.920T=	ENSP00000498052.2:p.Phe307=
ENST00000343257.7:c.920T= MANE Select	ENSP00000339867.2:p.Phe307=
ENST00000432192.6:c.744T=
ENST00000455478.6:c.508T=	ENSP00000400027.2:n.508T=
ENST00000650516.1:c.920T=	ENSP00000498052.1:p.Phe307=
ENST00000343257.6:c.920T=	ENSP00000339867.2:p.Phe307=
ENST00000432192.5:c.434T=
ENST00000455478.5:c.512T=
ENST00000495612.1:n.221T=
NM_000083.2:c.920T=	NP_000074.2:p.Phe307=
NR_046453.1:n.1010T=
XM_011515781.1:c.920T=	XP_011514083.1:p.Phe307=
XM_017011739.1:c.470T=	XP_016867228.1:p.Phe157=
XM_017011740.1:c.470T=	XP_016867229.1:p.Phe157=
NM_000083.3:c.920T= MANE Select	NP_000074.3:p.Phe307=
NR_046453.2:n.1025T=