Canonical Allele Identifier: CA1748889815

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332864C= , CM000669.2:g.143332864C=	GRCh38
NC_000007.13:g.143029957C= , CM000669.1:g.143029957C=	GRCh37
NC_000007.12:g.142740079C=	NCBI36
NG_009815.1:g.21739C=
NG_009815.2:g.21739C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1392C=	ENSP00000498052.2:p.Phe464=
ENST00000343257.7:c.1392C= MANE Select	ENSP00000339867.2:p.Phe464=
ENST00000432192.6:c.1216C=
ENST00000343257.6:c.1392C=	ENSP00000339867.2:p.Phe464=
NM_000083.2:c.1392C=	NP_000074.2:p.Phe464=
NR_046453.1:n.1341+361C=
XM_011515781.1:c.1416C=	XP_011514083.1:p.Phe472=
XM_011515782.1:c.138C=	XP_011514084.1:p.Phe46=
XM_011515782.2:c.138C=	XP_011514084.1:p.Phe46=
XM_017011739.1:c.966C=	XP_016867228.1:p.Phe322=
XM_017011740.1:c.942C=	XP_016867229.1:p.Phe314=
NM_000083.3:c.1392C= MANE Select	NP_000074.3:p.Phe464=
NR_046453.2:n.1356+361C=