Canonical Allele Identifier: CA369641606

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2939182
• ClinVar RCV Id: RCV003791908
• MyVariant Identifiers: chr7:g.143027922G>A (hg19) ; chr7:g.143330829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330829G>A , CM000669.2:g.143330829G>A	GRCh38
NC_000007.13:g.143027922G>A , CM000669.1:g.143027922G>A	GRCh37
NC_000007.12:g.142738044G>A	NCBI36
NG_009815.1:g.19704G>A
NG_009815.2:g.19704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.911G>A	ENSP00000498052.2:p.Arg304Lys
ENST00000343257.7:c.911G>A MANE Select	ENSP00000339867.2:p.Arg304Lys
ENST00000432192.6:c.735G>A
ENST00000455478.6:c.499G>A	ENSP00000400027.2:n.499G>A
ENST00000650516.1:c.911G>A	ENSP00000498052.1:p.Arg304Lys
ENST00000343257.6:c.911G>A	ENSP00000339867.2:p.Arg304Lys
ENST00000432192.5:c.425G>A
ENST00000455478.5:c.503G>A
ENST00000495612.1:n.212G>A
NM_000083.2:c.911G>A	NP_000074.2:p.Arg304Lys
NR_046453.1:n.1001G>A
XM_011515781.1:c.911G>A	XP_011514083.1:p.Arg304Lys
XM_017011739.1:c.461G>A	XP_016867228.1:p.Arg154Lys
XM_017011740.1:c.461G>A	XP_016867229.1:p.Arg154Lys
NM_000083.3:c.911G>A MANE Select	NP_000074.3:p.Arg304Lys
NR_046453.2:n.1016G>A