Canonical Allele Identifier: CA1748889645

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332491C= , CM000669.2:g.143332491C=	GRCh38
NC_000007.13:g.143029584C= , CM000669.1:g.143029584C=	GRCh37
NC_000007.12:g.142739706C=	NCBI36
NG_009815.1:g.21366C=
NG_009815.2:g.21366C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1239C=	ENSP00000498052.2:p.Phe413=
ENST00000343257.7:c.1239C= MANE Select	ENSP00000339867.2:p.Phe413=
ENST00000432192.6:c.1063C=
ENST00000343257.6:c.1239C=	ENSP00000339867.2:p.Phe413=
NM_000083.2:c.1239C=	NP_000074.2:p.Phe413=
NR_046453.1:n.1329C=
XM_011515781.1:c.1239C=	XP_011514083.1:p.Phe413=
XM_011515782.1:c.-3-233C=	XP_011514084.1:n.-3-233C=
XM_011515782.2:c.-3-233C=	XP_011514084.1:n.-3-233C=
XM_017011739.1:c.789C=	XP_016867228.1:p.Phe263=
XM_017011740.1:c.789C=	XP_016867229.1:p.Phe263=
NM_000083.3:c.1239C= MANE Select	NP_000074.3:p.Phe413=
NR_046453.2:n.1344C=