Canonical Allele Identifier: CA369646514

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039105A>G (hg19) ; chr7:g.143342012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342012A>G , CM000669.2:g.143342012A>G	GRCh38
NC_000007.13:g.143039105A>G , CM000669.1:g.143039105A>G	GRCh37
NC_000007.12:g.142749227A>G	NCBI36
NG_009815.1:g.30887A>G
NG_009815.2:g.30887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1666A>G	ENSP00000498052.2:p.Ile556Val
ENST00000343257.7:c.1666A>G MANE Select	ENSP00000339867.2:p.Ile556Val
ENST00000432192.6:c.1490A>G
ENST00000343257.6:c.1666A>G	ENSP00000339867.2:p.Ile556Val
NM_000083.2:c.1666A>G	NP_000074.2:p.Ile556Val
NR_046453.1:n.1606A>G
XM_011515781.1:c.1690A>G	XP_011514083.1:p.Ile564Val
XM_011515782.1:c.412A>G	XP_011514084.1:p.Ile138Val
XM_011515782.2:c.412A>G	XP_011514084.1:p.Ile138Val
XM_017011739.1:c.1240A>G	XP_016867228.1:p.Ile414Val
XM_017011740.1:c.1216A>G	XP_016867229.1:p.Ile406Val
NM_000083.3:c.1666A>G MANE Select	NP_000074.3:p.Ile556Val
NR_046453.2:n.1621A>G