Canonical Allele Identifier: CA4536957

Gene: CLCN1

Linked Data

• dbSNP Id: rs750408091
• ExAC: 7:143018470 C / T
• gnomAD v2: 7-143018470-C-T
• gnomAD v4: 7-143321377-C-T
• MyVariant Identifiers: chr7:g.143018470C>T (hg19) ; chr7:g.143321377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321377C>T , CM000669.2:g.143321377C>T	GRCh38
NC_000007.13:g.143018470C>T , CM000669.1:g.143018470C>T	GRCh37
NC_000007.12:g.142728592C>T	NCBI36
NG_009815.1:g.10252C>T
NG_009815.2:g.10252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.446C>T	ENSP00000498052.2:p.Ser149Phe
ENST00000343257.7:c.446C>T MANE Select	ENSP00000339867.2:p.Ser149Phe
ENST00000432192.6:c.214C>T
ENST00000650516.1:c.446C>T	ENSP00000498052.1:p.Ser149Phe
ENST00000343257.6:c.446C>T	ENSP00000339867.2:p.Ser149Phe
NM_000083.2:c.446C>T	NP_000074.2:p.Ser149Phe
NR_046453.1:n.533C>T
XM_011515781.1:c.446C>T	XP_011514083.1:p.Ser149Phe
XM_017011739.1:c.153C>T	XP_016867228.1:p.Val51=
XM_017011740.1:c.153C>T	XP_016867229.1:p.Val51=
NM_000083.3:c.446C>T MANE Select	NP_000074.3:p.Ser149Phe
NR_046453.2:n.548C>T