Canonical Allele Identifier: CA369679065

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143319783C>A , CM000669.2:g.143319783C>A	GRCh38
NC_000007.13:g.143016876C>A , CM000669.1:g.143016876C>A	GRCh37
NC_000007.12:g.142726998C>A	NCBI36
NG_009815.1:g.8658C>A
NG_009815.2:g.8658C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.209C>A MANE Select	NP_000074.3:p.Ser70Ter
ENST00000343257.7:c.209C>A MANE Select	ENSP00000339867.2:p.Ser70Ter
NM_000083.2:c.209C>A	NP_000074.2:p.Ser70Ter
NR_046453.1:n.296C>A
NR_046453.2:n.311C>A
ENST00000343257.6:c.209C>A	ENSP00000339867.2:p.Ser70Ter
ENST00000650516.1:c.209C>A	ENSP00000498052.1:p.Ser70Ter
ENST00000650516.2:c.209C>A	ENSP00000498052.2:p.Ser70Ter
XM_011515781.1:c.209C>A	XP_011514083.1:p.Ser70Ter
XM_017011739.1:c.-85C>A	XP_016867228.1:n.-85C>A
XM_017011740.1:c.-85C>A	XP_016867229.1:n.-85C>A