Canonical Allele Identifier: CA1748892886

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339547C= , CM000669.2:g.143339547C=	GRCh38
NC_000007.13:g.143036640C= , CM000669.1:g.143036640C=	GRCh37
NC_000007.12:g.142746762C=	NCBI36
NG_009815.1:g.28422C=
NG_009815.2:g.28422C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1508C=	ENSP00000498052.2:p.Ala503=
ENST00000343257.7:c.1508C= MANE Select	ENSP00000339867.2:p.Ala503=
ENST00000432192.6:c.1332C=
ENST00000343257.6:c.1508C=	ENSP00000339867.2:p.Ala503=
NM_000083.2:c.1508C=	NP_000074.2:p.Ala503=
NR_046453.1:n.1448C=
XM_011515781.1:c.1532C=	XP_011514083.1:p.Ala511=
XM_011515782.1:c.254C=	XP_011514084.1:p.Ala85=
XM_011515782.2:c.254C=	XP_011514084.1:p.Ala85=
XM_017011739.1:c.1082C=	XP_016867228.1:p.Ala361=
XM_017011740.1:c.1058C=	XP_016867229.1:p.Ala353=
NM_000083.3:c.1508C= MANE Select	NP_000074.3:p.Ala503=
NR_046453.2:n.1463C=