Canonical Allele Identifier: CA458282909

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2947708
• ClinVar RCV Id: RCV003804338
• dbSNP Id: rs2116865237
• MyVariant Identifiers: chr7:g.143036632A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339539A>G , CM000669.2:g.143339539A>G	GRCh38
NC_000007.13:g.143036632A>G , CM000669.1:g.143036632A>G	GRCh37
NC_000007.12:g.142746754A>G	NCBI36
NG_009815.1:g.28414A>G
NG_009815.2:g.28414A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1500A>G	ENSP00000498052.2:p.Glu500=
ENST00000343257.7:c.1500A>G MANE Select	ENSP00000339867.2:p.Glu500=
ENST00000432192.6:c.1324A>G
ENST00000343257.6:c.1500A>G	ENSP00000339867.2:p.Glu500=
NM_000083.2:c.1500A>G	NP_000074.2:p.Glu500=
NR_046453.1:n.1440A>G
XM_011515781.1:c.1524A>G	XP_011514083.1:p.Glu508=
XM_011515782.1:c.246A>G	XP_011514084.1:p.Glu82=
XM_011515782.2:c.246A>G	XP_011514084.1:p.Glu82=
XM_017011739.1:c.1074A>G	XP_016867228.1:p.Glu358=
XM_017011740.1:c.1050A>G	XP_016867229.1:p.Glu350=
NM_000083.3:c.1500A>G MANE Select	NP_000074.3:p.Glu500=
NR_046453.2:n.1455A>G