Canonical Allele Identifier: CA369684106

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2943938
• ClinVar RCV Id: RCV003803496
• dbSNP Id: rs1302735361
• gnomAD v3: 7-143321493-G-A
• gnomAD v4: 7-143321493-G-A
• MyVariant Identifiers: chr7:g.143018586G>A (hg19) ; chr7:g.143321493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321493G>A , CM000669.2:g.143321493G>A	GRCh38
NC_000007.13:g.143018586G>A , CM000669.1:g.143018586G>A	GRCh37
NC_000007.12:g.142728708G>A	NCBI36
NG_009815.1:g.10368G>A
NG_009815.2:g.10368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562G>A	ENSP00000498052.2:p.Gly188Ser
ENST00000343257.7:c.562G>A MANE Select	ENSP00000339867.2:p.Gly188Ser
ENST00000432192.6:c.330G>A
ENST00000455478.6:c.16G>A	ENSP00000400027.2:p.Gly6Ser
ENST00000650516.1:c.562G>A	ENSP00000498052.1:p.Gly188Ser
ENST00000343257.6:c.562G>A	ENSP00000339867.2:p.Gly188Ser
ENST00000432192.5:c.20G>A
ENST00000455478.5:c.20G>A
ENST00000495612.1:n.20G>A
NM_000083.2:c.562G>A	NP_000074.2:p.Gly188Ser
NR_046453.1:n.649G>A
XM_011515781.1:c.562G>A	XP_011514083.1:p.Gly188Ser
XM_017011739.1:c.269G>A	XP_016867228.1:p.Trp90Ter
XM_017011740.1:c.269G>A	XP_016867229.1:p.Trp90Ter
NM_000083.3:c.562G>A MANE Select	NP_000074.3:p.Gly188Ser
NR_046453.2:n.664G>A