Canonical Allele Identifier: CA1748888124

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321409C= , CM000669.2:g.143321409C=	GRCh38
NC_000007.13:g.143018502C= , CM000669.1:g.143018502C=	GRCh37
NC_000007.12:g.142728624C=	NCBI36
NG_009815.1:g.10284C=
NG_009815.2:g.10284C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.478C=	ENSP00000498052.2:p.Gln160=
ENST00000343257.7:c.478C= MANE Select	ENSP00000339867.2:p.Gln160=
ENST00000432192.6:c.246C=
ENST00000650516.1:c.478C=	ENSP00000498052.1:p.Gln160=
ENST00000343257.6:c.478C=	ENSP00000339867.2:p.Gln160=
NM_000083.2:c.478C=	NP_000074.2:p.Gln160=
NR_046453.1:n.565C=
XM_011515781.1:c.478C=	XP_011514083.1:p.Gln160=
XM_017011739.1:c.185C=	XP_016867228.1:p.Ala62=
XM_017011740.1:c.185C=	XP_016867229.1:p.Ala62=
NM_000083.3:c.478C= MANE Select	NP_000074.3:p.Gln160=
NR_046453.2:n.580C=