Canonical Allele Identifier: CA458280555

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330833-A-G
• MyVariant Identifiers: chr7:g.143027926A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330833A>G , CM000669.2:g.143330833A>G	GRCh38
NC_000007.13:g.143027926A>G , CM000669.1:g.143027926A>G	GRCh37
NC_000007.12:g.142738048A>G	NCBI36
NG_009815.1:g.19708A>G
NG_009815.2:g.19708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.915A>G	ENSP00000498052.2:p.Gly305=
ENST00000343257.7:c.915A>G MANE Select	ENSP00000339867.2:p.Gly305=
ENST00000432192.6:c.739A>G
ENST00000455478.6:c.503A>G	ENSP00000400027.2:n.503A>G
ENST00000650516.1:c.915A>G	ENSP00000498052.1:p.Gly305=
ENST00000343257.6:c.915A>G	ENSP00000339867.2:p.Gly305=
ENST00000432192.5:c.429A>G
ENST00000455478.5:c.507A>G
ENST00000495612.1:n.216A>G
NM_000083.2:c.915A>G	NP_000074.2:p.Gly305=
NR_046453.1:n.1005A>G
XM_011515781.1:c.915A>G	XP_011514083.1:p.Gly305=
XM_017011739.1:c.465A>G	XP_016867228.1:p.Gly155=
XM_017011740.1:c.465A>G	XP_016867229.1:p.Gly155=
NM_000083.3:c.915A>G MANE Select	NP_000074.3:p.Gly305=
NR_046453.2:n.1020A>G