Canonical Allele Identifier: CA1748888914

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330825T= , CM000669.2:g.143330825T=	GRCh38
NC_000007.13:g.143027918T= , CM000669.1:g.143027918T=	GRCh37
NC_000007.12:g.142738040T=	NCBI36
NG_009815.1:g.19700T=
NG_009815.2:g.19700T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.907T=	ENSP00000498052.2:p.Trp303=
ENST00000343257.7:c.907T= MANE Select	ENSP00000339867.2:p.Trp303=
ENST00000432192.6:c.731T=
ENST00000455478.6:c.495T=	ENSP00000400027.2:n.495T=
ENST00000650516.1:c.907T=	ENSP00000498052.1:p.Trp303=
ENST00000343257.6:c.907T=	ENSP00000339867.2:p.Trp303=
ENST00000432192.5:c.421T=
ENST00000455478.5:c.499T=
ENST00000495612.1:n.208T=
NM_000083.2:c.907T=	NP_000074.2:p.Trp303=
NR_046453.1:n.997T=
XM_011515781.1:c.907T=	XP_011514083.1:p.Trp303=
XM_017011739.1:c.457T=	XP_016867228.1:p.Trp153=
XM_017011740.1:c.457T=	XP_016867229.1:p.Trp153=
NM_000083.3:c.907T= MANE Select	NP_000074.3:p.Trp303=
NR_046453.2:n.1012T=