Canonical Allele Identifier: CA369645333

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036377C>G (hg19) ; chr7:g.143339284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339284C>G , CM000669.2:g.143339284C>G	GRCh38
NC_000007.13:g.143036377C>G , CM000669.1:g.143036377C>G	GRCh37
NC_000007.12:g.142746499C>G	NCBI36
NG_009815.1:g.28159C>G
NG_009815.2:g.28159C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1433C>G	ENSP00000498052.2:p.Pro478Arg
ENST00000343257.7:c.1433C>G MANE Select	ENSP00000339867.2:p.Pro478Arg
ENST00000432192.6:c.1257C>G
ENST00000343257.6:c.1433C>G	ENSP00000339867.2:p.Pro478Arg
NM_000083.2:c.1433C>G	NP_000074.2:p.Pro478Arg
NR_046453.1:n.1373C>G
XM_011515781.1:c.1457C>G	XP_011514083.1:p.Pro486Arg
XM_011515782.1:c.179C>G	XP_011514084.1:p.Pro60Arg
XM_011515782.2:c.179C>G	XP_011514084.1:p.Pro60Arg
XM_017011739.1:c.1007C>G	XP_016867228.1:p.Pro336Arg
XM_017011740.1:c.983C>G	XP_016867229.1:p.Pro328Arg
NM_000083.3:c.1433C>G MANE Select	NP_000074.3:p.Pro478Arg
NR_046453.2:n.1388C>G