Canonical Allele Identifier: CA4537593

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346186C>G , CM000669.2:g.143346186C>G	GRCh38
NC_000007.13:g.143043279C>G , CM000669.1:g.143043279C>G	GRCh37
NC_000007.12:g.142753401C>G	NCBI36
NG_009815.1:g.35061C>G
NG_009815.2:g.35061C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2219C>G MANE Select	NP_000074.3:p.Ser740Cys
ENST00000343257.7:c.2219C>G MANE Select	ENSP00000339867.2:p.Ser740Cys
NM_000083.2:c.2219C>G	NP_000074.2:p.Ser740Cys
NR_046453.1:n.2159C>G
NR_046453.2:n.2174C>G
ENST00000343257.6:c.2219C>G	ENSP00000339867.2:p.Ser740Cys
ENST00000432192.6:c.2043C>G
ENST00000650516.2:c.2219C>G	ENSP00000498052.2:p.Ser740Cys
XM_011515781.1:c.2243C>G	XP_011514083.1:p.Ser748Cys
XM_011515782.1:c.965C>G	XP_011514084.1:p.Ser322Cys
XM_011515782.2:c.965C>G	XP_011514084.1:p.Ser322Cys
XM_017011739.1:c.1793C>G	XP_016867228.1:p.Ser598Cys
XM_017011740.1:c.1769C>G	XP_016867229.1:p.Ser590Cys