Canonical Allele Identifier: CA369684451

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2136616
• ClinVar RCV Id: RCV003062144
• dbSNP Id: rs1563074523
• gnomAD v4: 7-143321750-G-A
• MyVariant Identifiers: chr7:g.143018843G>A (hg19) ; chr7:g.143321750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321750G>A , CM000669.2:g.143321750G>A	GRCh38
NC_000007.13:g.143018843G>A , CM000669.1:g.143018843G>A	GRCh37
NC_000007.12:g.142728965G>A	NCBI36
NG_009815.1:g.10625G>A
NG_009815.2:g.10625G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.598G>A	ENSP00000498052.2:p.Gly200Arg
ENST00000343257.7:c.598G>A MANE Select	ENSP00000339867.2:p.Gly200Arg
ENST00000432192.6:c.366G>A
ENST00000455478.6:c.52G>A	ENSP00000400027.2:p.Gly18Arg
ENST00000650516.1:c.598G>A	ENSP00000498052.1:p.Gly200Arg
ENST00000343257.6:c.598G>A	ENSP00000339867.2:p.Gly200Arg
ENST00000432192.5:c.56G>A
ENST00000455478.5:c.56G>A
ENST00000495612.1:n.56G>A
NM_000083.2:c.598G>A	NP_000074.2:p.Gly200Arg
NR_046453.1:n.685G>A
XM_011515781.1:c.598G>A	XP_011514083.1:p.Gly200Arg
XM_017011739.1:c.305G>A	XP_016867228.1:p.Trp102Ter
XM_017011740.1:c.305G>A	XP_016867229.1:p.Trp102Ter
NM_000083.3:c.598G>A MANE Select	NP_000074.3:p.Gly200Arg
NR_046453.2:n.700G>A