Canonical Allele Identifier: CA369646466

Gene: CLCN1

Linked Data

• dbSNP Id: rs1239385810
• gnomAD v3: 7-143341989-A-G
• gnomAD v4: 7-143341989-A-G
• MyVariant Identifiers: chr7:g.143039082A>G (hg19) ; chr7:g.143341989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341989A>G , CM000669.2:g.143341989A>G	GRCh38
NC_000007.13:g.143039082A>G , CM000669.1:g.143039082A>G	GRCh37
NC_000007.12:g.142749204A>G	NCBI36
NG_009815.1:g.30864A>G
NG_009815.2:g.30864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1643A>G	ENSP00000498052.2:p.Glu548Gly
ENST00000343257.7:c.1643A>G MANE Select	ENSP00000339867.2:p.Glu548Gly
ENST00000432192.6:c.1467A>G
ENST00000343257.6:c.1643A>G	ENSP00000339867.2:p.Glu548Gly
NM_000083.2:c.1643A>G	NP_000074.2:p.Glu548Gly
NR_046453.1:n.1583A>G
XM_011515781.1:c.1667A>G	XP_011514083.1:p.Glu556Gly
XM_011515782.1:c.389A>G	XP_011514084.1:p.Glu130Gly
XM_011515782.2:c.389A>G	XP_011514084.1:p.Glu130Gly
XM_017011739.1:c.1217A>G	XP_016867228.1:p.Glu406Gly
XM_017011740.1:c.1193A>G	XP_016867229.1:p.Glu398Gly
NM_000083.3:c.1643A>G MANE Select	NP_000074.3:p.Glu548Gly
NR_046453.2:n.1598A>G