Canonical Allele Identifier: CA1748888173

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321432C= , CM000669.2:g.143321432C=	GRCh38
NC_000007.13:g.143018525C= , CM000669.1:g.143018525C=	GRCh37
NC_000007.12:g.142728647C=	NCBI36
NG_009815.1:g.10307C=
NG_009815.2:g.10307C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.501C=	ENSP00000498052.2:p.Phe167=
ENST00000343257.7:c.501C= MANE Select	ENSP00000339867.2:p.Phe167=
ENST00000432192.6:c.269C=
ENST00000650516.1:c.501C=	ENSP00000498052.1:p.Phe167=
ENST00000343257.6:c.501C=	ENSP00000339867.2:p.Phe167=
NM_000083.2:c.501C=	NP_000074.2:p.Phe167=
NR_046453.1:n.588C=
XM_011515781.1:c.501C=	XP_011514083.1:p.Phe167=
XM_017011739.1:c.208C=	XP_016867228.1:p.Pro70=
XM_017011740.1:c.208C=	XP_016867229.1:p.Pro70=
NM_000083.3:c.501C= MANE Select	NP_000074.3:p.Phe167=
NR_046453.2:n.603C=