Canonical Allele Identifier: CA1748893908

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341938C= , CM000669.2:g.143341938C=	GRCh38
NC_000007.13:g.143039031C= , CM000669.1:g.143039031C=	GRCh37
NC_000007.12:g.142749153C=	NCBI36
NG_009815.1:g.30813C=
NG_009815.2:g.30813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1592C=	ENSP00000498052.2:p.Ala531=
ENST00000343257.7:c.1592C= MANE Select	ENSP00000339867.2:p.Ala531=
ENST00000432192.6:c.1416C=
ENST00000343257.6:c.1592C=	ENSP00000339867.2:p.Ala531=
NM_000083.2:c.1592C=	NP_000074.2:p.Ala531=
NR_046453.1:n.1532C=
XM_011515781.1:c.1616C=	XP_011514083.1:p.Ala539=
XM_011515782.1:c.338C=	XP_011514084.1:p.Ala113=
XM_011515782.2:c.338C=	XP_011514084.1:p.Ala113=
XM_017011739.1:c.1166C=	XP_016867228.1:p.Ala389=
XM_017011740.1:c.1142C=	XP_016867229.1:p.Ala381=
NM_000083.3:c.1592C= MANE Select	NP_000074.3:p.Ala531=
NR_046453.2:n.1547C=