Canonical Allele Identifier: CA1748897732

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350589C= , CM000669.2:g.143350589C=	GRCh38
NC_000007.13:g.143047682C= , CM000669.1:g.143047682C=	GRCh37
NC_000007.12:g.142757804C=	NCBI36
NG_009815.1:g.39464C=
NG_009815.2:g.39464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2530C=	ENSP00000498052.2:p.Leu844=
ENST00000343257.7:c.2530C= MANE Select	ENSP00000339867.2:p.Leu844=
ENST00000432192.6:c.2354C=
ENST00000343257.6:c.2530C=	ENSP00000339867.2:p.Leu844=
NM_000083.2:c.2530C=	NP_000074.2:p.Leu844=
NR_046453.1:n.2470C=
XM_011515781.1:c.2554C=	XP_011514083.1:p.Leu852=
XM_011515782.1:c.1276C=	XP_011514084.1:p.Leu426=
XM_011515782.2:c.1276C=	XP_011514084.1:p.Leu426=
XM_017011739.1:c.2104C=	XP_016867228.1:p.Leu702=
XM_017011740.1:c.2080C=	XP_016867229.1:p.Leu694=
NM_000083.3:c.2530C= MANE Select	NP_000074.3:p.Leu844=
NR_046453.2:n.2485C=