Canonical Allele Identifier: CA1748893985

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342110C= , CM000669.2:g.143342110C=	GRCh38
NC_000007.13:g.143039203C= , CM000669.1:g.143039203C=	GRCh37
NC_000007.12:g.142749325C=	NCBI36
NG_009815.1:g.30985C=
NG_009815.2:g.30985C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1764C=	ENSP00000498052.2:p.Pro588=
ENST00000343257.7:c.1764C= MANE Select	ENSP00000339867.2:p.Pro588=
ENST00000432192.6:c.1588C=
ENST00000343257.6:c.1764C=	ENSP00000339867.2:p.Pro588=
NM_000083.2:c.1764C=	NP_000074.2:p.Pro588=
NR_046453.1:n.1704C=
XM_011515781.1:c.1788C=	XP_011514083.1:p.Pro596=
XM_011515782.1:c.510C=	XP_011514084.1:p.Pro170=
XM_011515782.2:c.510C=	XP_011514084.1:p.Pro170=
XM_017011739.1:c.1338C=	XP_016867228.1:p.Pro446=
XM_017011740.1:c.1314C=	XP_016867229.1:p.Pro438=
NM_000083.3:c.1764C= MANE Select	NP_000074.3:p.Pro588=
NR_046453.2:n.1719C=