Canonical Allele Identifier: CA1748888955

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330903C= , CM000669.2:g.143330903C=	GRCh38
NC_000007.13:g.143027996C= , CM000669.1:g.143027996C=	GRCh37
NC_000007.12:g.142738118C=	NCBI36
NG_009815.1:g.19778C=
NG_009815.2:g.19778C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+6C=	ENSP00000498052.2:n.979+6C=
ENST00000343257.7:c.979+6C= MANE Select	ENSP00000339867.2:n.979+6C=
ENST00000432192.6:c.803+6C=
ENST00000343257.6:c.979+6C=	ENSP00000339867.2:n.979+6C=
NM_000083.2:c.979+6C=	NP_000074.2:n.979+6C=
NR_046453.1:n.1069+6C=
XM_011515781.1:c.979+6C=	XP_011514083.1:n.979+6C=
XM_017011739.1:c.529+6C=	XP_016867228.1:n.529+6C=
XM_017011740.1:c.529+6C=	XP_016867229.1:n.529+6C=
NM_000083.3:c.979+6C= MANE Select	NP_000074.3:n.979+6C=
NR_046453.2:n.1084+6C=