Canonical Allele Identifier: CA369653149

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143047674T>G (hg19) ; chr7:g.143350581T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350581T>G , CM000669.2:g.143350581T>G	GRCh38
NC_000007.13:g.143047674T>G , CM000669.1:g.143047674T>G	GRCh37
NC_000007.12:g.142757796T>G	NCBI36
NG_009815.1:g.39456T>G
NG_009815.2:g.39456T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2522T>G	ENSP00000498052.2:p.Phe841Cys
ENST00000343257.7:c.2522T>G MANE Select	ENSP00000339867.2:p.Phe841Cys
ENST00000432192.6:c.2346T>G
ENST00000343257.6:c.2522T>G	ENSP00000339867.2:p.Phe841Cys
NM_000083.2:c.2522T>G	NP_000074.2:p.Phe841Cys
NR_046453.1:n.2462T>G
XM_011515781.1:c.2546T>G	XP_011514083.1:p.Phe849Cys
XM_011515782.1:c.1268T>G	XP_011514084.1:p.Phe423Cys
XM_011515782.2:c.1268T>G	XP_011514084.1:p.Phe423Cys
XM_017011739.1:c.2096T>G	XP_016867228.1:p.Phe699Cys
XM_017011740.1:c.2072T>G	XP_016867229.1:p.Phe691Cys
NM_000083.3:c.2522T>G MANE Select	NP_000074.3:p.Phe841Cys
NR_046453.2:n.2477T>G