Canonical Allele Identifier: CA4537686

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350402C>T , CM000669.2:g.143350402C>T	GRCh38
NC_000007.13:g.143047495C>T , CM000669.1:g.143047495C>T	GRCh37
NC_000007.12:g.142757617C>T	NCBI36
NG_009815.1:g.39277C>T
NG_009815.2:g.39277C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2434C>T MANE Select	NP_000074.3:p.Gln812Ter
ENST00000343257.7:c.2434C>T MANE Select	ENSP00000339867.2:p.Gln812Ter
NM_000083.2:c.2434C>T	NP_000074.2:p.Gln812Ter
NR_046453.1:n.2374C>T
NR_046453.2:n.2389C>T
ENST00000343257.6:c.2434C>T	ENSP00000339867.2:p.Gln812Ter
ENST00000432192.6:c.2258C>T
ENST00000650516.2:c.2434C>T	ENSP00000498052.2:p.Gln812Ter
XM_011515781.1:c.2458C>T	XP_011514083.1:p.Gln820Ter
XM_011515782.1:c.1180C>T	XP_011514084.1:p.Gln394Ter
XM_011515782.2:c.1180C>T	XP_011514084.1:p.Gln394Ter
XM_017011739.1:c.2008C>T	XP_016867228.1:p.Gln670Ter
XM_017011740.1:c.1984C>T	XP_016867229.1:p.Gln662Ter