Canonical Allele Identifier: CA369641686

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027958T>G (hg19) ; chr7:g.143330865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330865T>G , CM000669.2:g.143330865T>G	GRCh38
NC_000007.13:g.143027958T>G , CM000669.1:g.143027958T>G	GRCh37
NC_000007.12:g.142738080T>G	NCBI36
NG_009815.1:g.19740T>G
NG_009815.2:g.19740T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.947T>G	ENSP00000498052.2:p.Phe316Cys
ENST00000343257.7:c.947T>G MANE Select	ENSP00000339867.2:p.Phe316Cys
ENST00000432192.6:c.771T>G
ENST00000455478.6:c.535T>G	ENSP00000400027.2:n.535T>G
ENST00000650516.1:c.947T>G	ENSP00000498052.1:p.Phe316Cys
ENST00000343257.6:c.947T>G	ENSP00000339867.2:p.Phe316Cys
ENST00000432192.5:c.461T>G
ENST00000455478.5:c.539T>G
ENST00000495612.1:n.248T>G
NM_000083.2:c.947T>G	NP_000074.2:p.Phe316Cys
NR_046453.1:n.1037T>G
XM_011515781.1:c.947T>G	XP_011514083.1:p.Phe316Cys
XM_017011739.1:c.497T>G	XP_016867228.1:p.Phe166Cys
XM_017011740.1:c.497T>G	XP_016867229.1:p.Phe166Cys
NM_000083.3:c.947T>G MANE Select	NP_000074.3:p.Phe316Cys
NR_046453.2:n.1052T>G