Canonical Allele Identifier: CA4537184

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330880T>A , CM000669.2:g.143330880T>A	GRCh38
NC_000007.13:g.143027973T>A , CM000669.1:g.143027973T>A	GRCh37
NC_000007.12:g.142738095T>A	NCBI36
NG_009815.1:g.19755T>A
NG_009815.2:g.19755T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.962T>A MANE Select	NP_000074.3:p.Val321Glu
ENST00000343257.7:c.962T>A MANE Select	ENSP00000339867.2:p.Val321Glu
NM_000083.2:c.962T>A	NP_000074.2:p.Val321Glu
NR_046453.1:n.1052T>A
NR_046453.2:n.1067T>A
ENST00000343257.6:c.962T>A	ENSP00000339867.2:p.Val321Glu
ENST00000432192.5:c.476T>A
ENST00000432192.6:c.786T>A
ENST00000455478.5:c.554T>A
ENST00000455478.6:c.550T>A	ENSP00000400027.2:n.550T>A
ENST00000495612.1:n.263T>A
ENST00000650516.1:c.962T>A	ENSP00000498052.1:p.Val321Glu
ENST00000650516.2:c.962T>A	ENSP00000498052.2:p.Val321Glu
XM_011515781.1:c.962T>A	XP_011514083.1:p.Val321Glu
XM_017011739.1:c.512T>A	XP_016867228.1:p.Val171Glu
XM_017011740.1:c.512T>A	XP_016867229.1:p.Val171Glu