Canonical Allele Identifier: CA369683478

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802428373
• MyVariant Identifiers: chr7:g.143018493C>G (hg19) ; chr7:g.143321400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321400C>G , CM000669.2:g.143321400C>G	GRCh38
NC_000007.13:g.143018493C>G , CM000669.1:g.143018493C>G	GRCh37
NC_000007.12:g.142728615C>G	NCBI36
NG_009815.1:g.10275C>G
NG_009815.2:g.10275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.469C>G	ENSP00000498052.2:p.Leu157Val
ENST00000343257.7:c.469C>G MANE Select	ENSP00000339867.2:p.Leu157Val
ENST00000432192.6:c.237C>G
ENST00000650516.1:c.469C>G	ENSP00000498052.1:p.Leu157Val
ENST00000343257.6:c.469C>G	ENSP00000339867.2:p.Leu157Val
NM_000083.2:c.469C>G	NP_000074.2:p.Leu157Val
NR_046453.1:n.556C>G
XM_011515781.1:c.469C>G	XP_011514083.1:p.Leu157Val
XM_017011739.1:c.176C>G	XP_016867228.1:p.Pro59Arg
XM_017011740.1:c.176C>G	XP_016867229.1:p.Pro59Arg
NM_000083.3:c.469C>G MANE Select	NP_000074.3:p.Leu157Val
NR_046453.2:n.571C>G