Canonical Allele Identifier: CA458283465

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039218T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342125T>G , CM000669.2:g.143342125T>G	GRCh38
NC_000007.13:g.143039218T>G , CM000669.1:g.143039218T>G	GRCh37
NC_000007.12:g.142749340T>G	NCBI36
NG_009815.1:g.31000T>G
NG_009815.2:g.31000T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1779T>G	ENSP00000498052.2:p.Leu593=
ENST00000343257.7:c.1779T>G MANE Select	ENSP00000339867.2:p.Leu593=
ENST00000432192.6:c.1603T>G
ENST00000343257.6:c.1779T>G	ENSP00000339867.2:p.Leu593=
NM_000083.2:c.1779T>G	NP_000074.2:p.Leu593=
NR_046453.1:n.1719T>G
XM_011515781.1:c.1803T>G	XP_011514083.1:p.Leu601=
XM_011515782.1:c.525T>G	XP_011514084.1:p.Leu175=
XM_011515782.2:c.525T>G	XP_011514084.1:p.Leu175=
XM_017011739.1:c.1353T>G	XP_016867228.1:p.Leu451=
XM_017011740.1:c.1329T>G	XP_016867229.1:p.Leu443=
NM_000083.3:c.1779T>G MANE Select	NP_000074.3:p.Leu593=
NR_046453.2:n.1734T>G