Canonical Allele Identifier: CA1748893942

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342014C= , CM000669.2:g.143342014C=	GRCh38
NC_000007.13:g.143039107C= , CM000669.1:g.143039107C=	GRCh37
NC_000007.12:g.142749229C=	NCBI36
NG_009815.1:g.30889C=
NG_009815.2:g.30889C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1668C=	ENSP00000498052.2:p.Ile556=
ENST00000343257.7:c.1668C= MANE Select	ENSP00000339867.2:p.Ile556=
ENST00000432192.6:c.1492C=
ENST00000343257.6:c.1668C=	ENSP00000339867.2:p.Ile556=
NM_000083.2:c.1668C=	NP_000074.2:p.Ile556=
NR_046453.1:n.1608C=
XM_011515781.1:c.1692C=	XP_011514083.1:p.Ile564=
XM_011515782.1:c.414C=	XP_011514084.1:p.Ile138=
XM_011515782.2:c.414C=	XP_011514084.1:p.Ile138=
XM_017011739.1:c.1242C=	XP_016867228.1:p.Ile414=
XM_017011740.1:c.1218C=	XP_016867229.1:p.Ile406=
NM_000083.3:c.1668C= MANE Select	NP_000074.3:p.Ile556=
NR_046453.2:n.1623C=