Canonical Allele Identifier: CA458280577

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027962A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330869A>G , CM000669.2:g.143330869A>G	GRCh38
NC_000007.13:g.143027962A>G , CM000669.1:g.143027962A>G	GRCh37
NC_000007.12:g.142738084A>G	NCBI36
NG_009815.1:g.19744A>G
NG_009815.2:g.19744A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.951A>G	ENSP00000498052.2:p.Arg317=
ENST00000343257.7:c.951A>G MANE Select	ENSP00000339867.2:p.Arg317=
ENST00000432192.6:c.775A>G
ENST00000455478.6:c.539A>G	ENSP00000400027.2:n.539A>G
ENST00000650516.1:c.951A>G	ENSP00000498052.1:p.Arg317=
ENST00000343257.6:c.951A>G	ENSP00000339867.2:p.Arg317=
ENST00000432192.5:c.465A>G
ENST00000455478.5:c.543A>G
ENST00000495612.1:n.252A>G
NM_000083.2:c.951A>G	NP_000074.2:p.Arg317=
NR_046453.1:n.1041A>G
XM_011515781.1:c.951A>G	XP_011514083.1:p.Arg317=
XM_017011739.1:c.501A>G	XP_016867228.1:p.Arg167=
XM_017011740.1:c.501A>G	XP_016867229.1:p.Arg167=
NM_000083.3:c.951A>G MANE Select	NP_000074.3:p.Arg317=
NR_046453.2:n.1056A>G