Canonical Allele Identifier: CA4537012

Gene: CLCN1

Linked Data

• dbSNP Id: rs759508927
• ExAC: 7:143018844 G / A
• gnomAD v2: 7-143018844-G-A
• gnomAD v4: 7-143321751-G-A
• MyVariant Identifiers: chr7:g.143018844G>A (hg19) ; chr7:g.143321751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321751G>A , CM000669.2:g.143321751G>A	GRCh38
NC_000007.13:g.143018844G>A , CM000669.1:g.143018844G>A	GRCh37
NC_000007.12:g.142728966G>A	NCBI36
NG_009815.1:g.10626G>A
NG_009815.2:g.10626G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.599G>A	ENSP00000498052.2:p.Gly200Glu
ENST00000343257.7:c.599G>A MANE Select	ENSP00000339867.2:p.Gly200Glu
ENST00000432192.6:c.367G>A
ENST00000455478.6:c.53G>A	ENSP00000400027.2:p.Gly18Glu
ENST00000650516.1:c.599G>A	ENSP00000498052.1:p.Gly200Glu
ENST00000343257.6:c.599G>A	ENSP00000339867.2:p.Gly200Glu
ENST00000432192.5:c.57G>A
ENST00000455478.5:c.57G>A
ENST00000495612.1:n.57G>A
NM_000083.2:c.599G>A	NP_000074.2:p.Gly200Glu
NR_046453.1:n.686G>A
XM_011515781.1:c.599G>A	XP_011514083.1:p.Gly200Glu
XM_017011739.1:c.306G>A	XP_016867228.1:p.Trp102Ter
XM_017011740.1:c.306G>A	XP_016867229.1:p.Trp102Ter
NM_000083.3:c.599G>A MANE Select	NP_000074.3:p.Gly200Glu
NR_046453.2:n.701G>A