Canonical Allele Identifier: CA458282899

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036626A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339533A>G , CM000669.2:g.143339533A>G	GRCh38
NC_000007.13:g.143036626A>G , CM000669.1:g.143036626A>G	GRCh37
NC_000007.12:g.142746748A>G	NCBI36
NG_009815.1:g.28408A>G
NG_009815.2:g.28408A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1494A>G	ENSP00000498052.2:p.Val498=
ENST00000343257.7:c.1494A>G MANE Select	ENSP00000339867.2:p.Val498=
ENST00000432192.6:c.1318A>G
ENST00000343257.6:c.1494A>G	ENSP00000339867.2:p.Val498=
NM_000083.2:c.1494A>G	NP_000074.2:p.Val498=
NR_046453.1:n.1434A>G
XM_011515781.1:c.1518A>G	XP_011514083.1:p.Val506=
XM_011515782.1:c.240A>G	XP_011514084.1:p.Val80=
XM_011515782.2:c.240A>G	XP_011514084.1:p.Val80=
XM_017011739.1:c.1068A>G	XP_016867228.1:p.Val356=
XM_017011740.1:c.1044A>G	XP_016867229.1:p.Val348=
NM_000083.3:c.1494A>G MANE Select	NP_000074.3:p.Val498=
NR_046453.2:n.1449A>G