Canonical Allele Identifier: CA458542073

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2928426
• ClinVar RCV Id: RCV003789200
• dbSNP Id: rs1343893045
• gnomAD v4: 7-143321486-G-A
• MyVariant Identifiers: chr7:g.143018579G>A (hg19) ; chr7:g.143321486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321486G>A , CM000669.2:g.143321486G>A	GRCh38
NC_000007.13:g.143018579G>A , CM000669.1:g.143018579G>A	GRCh37
NC_000007.12:g.142728701G>A	NCBI36
NG_009815.1:g.10361G>A
NG_009815.2:g.10361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.555G>A	ENSP00000498052.2:p.Gln185=
ENST00000343257.7:c.555G>A MANE Select	ENSP00000339867.2:p.Gln185=
ENST00000432192.6:c.323G>A
ENST00000455478.6:c.9G>A	ENSP00000400027.2:p.Gln3=
ENST00000650516.1:c.555G>A	ENSP00000498052.1:p.Gln185=
ENST00000343257.6:c.555G>A	ENSP00000339867.2:p.Gln185=
ENST00000432192.5:c.13G>A
ENST00000455478.5:c.13G>A
ENST00000495612.1:n.13G>A
NM_000083.2:c.555G>A	NP_000074.2:p.Gln185=
NR_046453.1:n.642G>A
XM_011515781.1:c.555G>A	XP_011514083.1:p.Gln185=
XM_017011739.1:c.262G>A	XP_016867228.1:p.Gly88Ser
XM_017011740.1:c.262G>A	XP_016867229.1:p.Gly88Ser
NM_000083.3:c.555G>A MANE Select	NP_000074.3:p.Gln185=
NR_046453.2:n.657G>A