Canonical Allele Identifier: CA1748881622

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321718C= , CM000669.2:g.143321718C=	GRCh38
NC_000007.13:g.143018811C= , CM000669.1:g.143018811C=	GRCh37
NC_000007.12:g.142728933C=	NCBI36
NG_009815.1:g.10593C=
NG_009815.2:g.10593C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.566C= MANE Select	NP_000074.3:p.Ser189=
ENST00000343257.7:c.566C= MANE Select	ENSP00000339867.2:p.Ser189=
NM_000083.2:c.566C=	NP_000074.2:p.Ser189=
NR_046453.1:n.653C=
NR_046453.2:n.668C=
ENST00000343257.6:c.566C=	ENSP00000339867.2:p.Ser189=
ENST00000432192.5:c.24C=
ENST00000432192.6:c.334C=
ENST00000455478.5:c.24C=
ENST00000455478.6:c.20C=	ENSP00000400027.2:p.Ser7=
ENST00000495612.1:n.24C=
ENST00000650516.1:c.566C=	ENSP00000498052.1:p.Ser189=
ENST00000650516.2:c.566C=	ENSP00000498052.2:p.Ser189=
XM_011515781.1:c.566C=	XP_011514083.1:p.Ser189=
XM_017011739.1:c.273C=	XP_016867228.1:p.Leu91=
XM_017011740.1:c.273C=	XP_016867229.1:p.Leu91=