Canonical Allele Identifier: CA458542137

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018878C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321785C>G , CM000669.2:g.143321785C>G	GRCh38
NC_000007.13:g.143018878C>G , CM000669.1:g.143018878C>G	GRCh37
NC_000007.12:g.142729000C>G	NCBI36
NG_009815.1:g.10660C>G
NG_009815.2:g.10660C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.633C>G	ENSP00000498052.2:p.Ala211=
ENST00000343257.7:c.633C>G MANE Select	ENSP00000339867.2:p.Ala211=
ENST00000432192.6:c.401C>G
ENST00000455478.6:c.87C>G	ENSP00000400027.2:p.Ala29=
ENST00000650516.1:c.633C>G	ENSP00000498052.1:p.Ala211=
ENST00000343257.6:c.633C>G	ENSP00000339867.2:p.Ala211=
ENST00000432192.5:c.91C>G
ENST00000455478.5:c.91C>G
ENST00000495612.1:n.91C>G
NM_000083.2:c.633C>G	NP_000074.2:p.Ala211=
NR_046453.1:n.720C>G
XM_011515781.1:c.633C>G	XP_011514083.1:p.Ala211=
XM_017011739.1:c.340C>G	XP_016867228.1:p.Leu114Val
XM_017011740.1:c.340C>G	XP_016867229.1:p.Leu114Val
NM_000083.3:c.633C>G MANE Select	NP_000074.3:p.Ala211=
NR_046453.2:n.735C>G