Canonical Allele Identifier: CA369684245

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1486657
• ClinVar RCV Id: RCV002003761
• dbSNP Id: rs746401512
• MyVariant Identifiers: chr7:g.143018814G>T (hg19) ; chr7:g.143321721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321721G>T , CM000669.2:g.143321721G>T	GRCh38
NC_000007.13:g.143018814G>T , CM000669.1:g.143018814G>T	GRCh37
NC_000007.12:g.142728936G>T	NCBI36
NG_009815.1:g.10596G>T
NG_009815.2:g.10596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.569G>T	ENSP00000498052.2:p.Gly190Val
ENST00000343257.7:c.569G>T MANE Select	ENSP00000339867.2:p.Gly190Val
ENST00000432192.6:c.337G>T
ENST00000455478.6:c.23G>T	ENSP00000400027.2:p.Gly8Val
ENST00000650516.1:c.569G>T	ENSP00000498052.1:p.Gly190Val
ENST00000343257.6:c.569G>T	ENSP00000339867.2:p.Gly190Val
ENST00000432192.5:c.27G>T
ENST00000455478.5:c.27G>T
ENST00000495612.1:n.27G>T
NM_000083.2:c.569G>T	NP_000074.2:p.Gly190Val
NR_046453.1:n.656G>T
XM_011515781.1:c.569G>T	XP_011514083.1:p.Gly190Val
XM_017011739.1:c.276G>T	XP_016867228.1:p.Trp92Cys
XM_017011740.1:c.276G>T	XP_016867229.1:p.Trp92Cys
NM_000083.3:c.569G>T MANE Select	NP_000074.3:p.Gly190Val
NR_046453.2:n.671G>T