Canonical Allele Identifier: CA1748881617

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321717T= , CM000669.2:g.143321717T=	GRCh38
NC_000007.13:g.143018810T= , CM000669.1:g.143018810T=	GRCh37
NC_000007.12:g.142728932T=	NCBI36
NG_009815.1:g.10592T=
NG_009815.2:g.10592T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.565T=	ENSP00000498052.2:p.Ser189=
ENST00000343257.7:c.565T= MANE Select	ENSP00000339867.2:p.Ser189=
ENST00000432192.6:c.333T=
ENST00000455478.6:c.19T=	ENSP00000400027.2:p.Ser7=
ENST00000650516.1:c.565T=	ENSP00000498052.1:p.Ser189=
ENST00000343257.6:c.565T=	ENSP00000339867.2:p.Ser189=
ENST00000432192.5:c.23T=
ENST00000455478.5:c.23T=
ENST00000495612.1:n.23T=
NM_000083.2:c.565T=	NP_000074.2:p.Ser189=
NR_046453.1:n.652T=
XM_011515781.1:c.565T=	XP_011514083.1:p.Ser189=
XM_017011739.1:c.272T=	XP_016867228.1:p.Leu91=
XM_017011740.1:c.272T=	XP_016867229.1:p.Leu91=
NM_000083.3:c.565T= MANE Select	NP_000074.3:p.Ser189=
NR_046453.2:n.667T=