Canonical Allele Identifier: CA1748881800

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321794C= , CM000669.2:g.143321794C=	GRCh38
NC_000007.13:g.143018887C= , CM000669.1:g.143018887C=	GRCh37
NC_000007.12:g.142729009C=	NCBI36
NG_009815.1:g.10669C=
NG_009815.2:g.10669C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.642C=	ENSP00000498052.2:p.Ala214=
ENST00000343257.7:c.642C= MANE Select	ENSP00000339867.2:p.Ala214=
ENST00000432192.6:c.410C=
ENST00000455478.6:c.96C=	ENSP00000400027.2:p.Ala32=
ENST00000650516.1:c.642C=	ENSP00000498052.1:p.Ala214=
ENST00000343257.6:c.642C=	ENSP00000339867.2:p.Ala214=
ENST00000432192.5:c.100C=
ENST00000455478.5:c.100C=
ENST00000495612.1:n.100C=
NM_000083.2:c.642C=	NP_000074.2:p.Ala214=
NR_046453.1:n.729C=
XM_011515781.1:c.642C=	XP_011514083.1:p.Ala214=
XM_017011739.1:c.349C=	XP_016867228.1:p.Gln117=
XM_017011740.1:c.349C=	XP_016867229.1:p.Gln117=
NM_000083.3:c.642C= MANE Select	NP_000074.3:p.Ala214=
NR_046453.2:n.744C=