Canonical Allele Identifier: CA369654278

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049030A>G (hg19) ; chr7:g.143351937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351937A>G , CM000669.2:g.143351937A>G	GRCh38
NC_000007.13:g.143049030A>G , CM000669.1:g.143049030A>G	GRCh37
NC_000007.12:g.142759152A>G	NCBI36
NG_009815.1:g.40812A>G
NG_009815.2:g.40812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2939A>G	ENSP00000498052.2:p.Glu980Gly
ENST00000343257.7:c.2939A>G MANE Select	ENSP00000339867.2:p.Glu980Gly
ENST00000343257.6:c.2939A>G	ENSP00000339867.2:p.Glu980Gly
NM_000083.2:c.2939A>G	NP_000074.2:p.Glu980Gly
NR_046453.1:n.2879A>G
XM_011515781.1:c.2963A>G	XP_011514083.1:p.Glu988Gly
XM_011515782.1:c.1685A>G	XP_011514084.1:p.Glu562Gly
XM_011515782.2:c.1685A>G	XP_011514084.1:p.Glu562Gly
XM_017011739.1:c.2513A>G	XP_016867228.1:p.Glu838Gly
XM_017011740.1:c.2489A>G	XP_016867229.1:p.Glu830Gly
NM_000083.3:c.2939A>G MANE Select	NP_000074.3:p.Glu980Gly
NR_046453.2:n.2894A>G