Canonical Allele Identifier: CA369684792

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018888A>G (hg19) ; chr7:g.143321795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321795A>G , CM000669.2:g.143321795A>G	GRCh38
NC_000007.13:g.143018888A>G , CM000669.1:g.143018888A>G	GRCh37
NC_000007.12:g.142729010A>G	NCBI36
NG_009815.1:g.10670A>G
NG_009815.2:g.10670A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.643A>G	ENSP00000498052.2:p.Lys215Glu
ENST00000343257.7:c.643A>G MANE Select	ENSP00000339867.2:p.Lys215Glu
ENST00000432192.6:c.411A>G
ENST00000455478.6:c.97A>G	ENSP00000400027.2:p.Lys33Glu
ENST00000650516.1:c.643A>G	ENSP00000498052.1:p.Lys215Glu
ENST00000343257.6:c.643A>G	ENSP00000339867.2:p.Lys215Glu
ENST00000432192.5:c.101A>G
ENST00000455478.5:c.101A>G
ENST00000495612.1:n.101A>G
NM_000083.2:c.643A>G	NP_000074.2:p.Lys215Glu
NR_046453.1:n.730A>G
XM_011515781.1:c.643A>G	XP_011514083.1:p.Lys215Glu
XM_017011739.1:c.350A>G	XP_016867228.1:p.Gln117Arg
XM_017011740.1:c.350A>G	XP_016867229.1:p.Gln117Arg
NM_000083.3:c.643A>G MANE Select	NP_000074.3:p.Lys215Glu
NR_046453.2:n.745A>G