Canonical Allele Identifier: CA369653159

Gene: CLCN1

Linked Data

• dbSNP Id: rs1327145106
• gnomAD v2: 7-143047679-C-G
• gnomAD v4: 7-143350586-C-G
• MyVariant Identifiers: chr7:g.143047679C>G (hg19) ; chr7:g.143350586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350586C>G , CM000669.2:g.143350586C>G	GRCh38
NC_000007.13:g.143047679C>G , CM000669.1:g.143047679C>G	GRCh37
NC_000007.12:g.142757801C>G	NCBI36
NG_009815.1:g.39461C>G
NG_009815.2:g.39461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2527C>G	ENSP00000498052.2:p.Leu843Val
ENST00000343257.7:c.2527C>G MANE Select	ENSP00000339867.2:p.Leu843Val
ENST00000432192.6:c.2351C>G
ENST00000343257.6:c.2527C>G	ENSP00000339867.2:p.Leu843Val
NM_000083.2:c.2527C>G	NP_000074.2:p.Leu843Val
NR_046453.1:n.2467C>G
XM_011515781.1:c.2551C>G	XP_011514083.1:p.Leu851Val
XM_011515782.1:c.1273C>G	XP_011514084.1:p.Leu425Val
XM_011515782.2:c.1273C>G	XP_011514084.1:p.Leu425Val
XM_017011739.1:c.2101C>G	XP_016867228.1:p.Leu701Val
XM_017011740.1:c.2077C>G	XP_016867229.1:p.Leu693Val
NM_000083.3:c.2527C>G MANE Select	NP_000074.3:p.Leu843Val
NR_046453.2:n.2482C>G