Canonical Allele Identifier: CA4537339

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2943628
• ClinVar RCV Id: RCV003803186
• dbSNP Id: rs562154756
• ExAC: 7:143029965 A / G
• gnomAD v2: 7-143029965-A-G
• gnomAD v4: 7-143332872-A-G
• MyVariant Identifiers: chr7:g.143029965A>G (hg19) ; chr7:g.143332872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332872A>G , CM000669.2:g.143332872A>G	GRCh38
NC_000007.13:g.143029965A>G , CM000669.1:g.143029965A>G	GRCh37
NC_000007.12:g.142740087A>G	NCBI36
NG_009815.1:g.21747A>G
NG_009815.2:g.21747A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1400A>G	ENSP00000498052.2:p.Lys467Arg
ENST00000343257.7:c.1400A>G MANE Select	ENSP00000339867.2:p.Lys467Arg
ENST00000432192.6:c.1224A>G
ENST00000343257.6:c.1400A>G	ENSP00000339867.2:p.Lys467Arg
NM_000083.2:c.1400A>G	NP_000074.2:p.Lys467Arg
NR_046453.1:n.1341+369A>G
XM_011515781.1:c.1424A>G	XP_011514083.1:p.Lys475Arg
XM_011515782.1:c.146A>G	XP_011514084.1:p.Lys49Arg
XM_011515782.2:c.146A>G	XP_011514084.1:p.Lys49Arg
XM_017011739.1:c.974A>G	XP_016867228.1:p.Lys325Arg
XM_017011740.1:c.950A>G	XP_016867229.1:p.Lys317Arg
NM_000083.3:c.1400A>G MANE Select	NP_000074.3:p.Lys467Arg
NR_046453.2:n.1356+369A>G