Canonical Allele Identifier: CA369645982

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339619T>G , CM000669.2:g.143339619T>G	GRCh38
NC_000007.13:g.143036712T>G , CM000669.1:g.143036712T>G	GRCh37
NC_000007.12:g.142746834T>G	NCBI36
NG_009815.1:g.28494T>G
NG_009815.2:g.28494T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1580T>G MANE Select	NP_000074.3:p.Ile527Ser
ENST00000343257.7:c.1580T>G MANE Select	ENSP00000339867.2:p.Ile527Ser
NM_000083.2:c.1580T>G	NP_000074.2:p.Ile527Ser
NR_046453.1:n.1520T>G
NR_046453.2:n.1535T>G
ENST00000343257.6:c.1580T>G	ENSP00000339867.2:p.Ile527Ser
ENST00000432192.6:c.1404T>G
ENST00000650516.2:c.1580T>G	ENSP00000498052.2:p.Ile527Ser
XM_011515781.1:c.1604T>G	XP_011514083.1:p.Ile535Ser
XM_011515782.1:c.326T>G	XP_011514084.1:p.Ile109Ser
XM_011515782.2:c.326T>G	XP_011514084.1:p.Ile109Ser
XM_017011739.1:c.1154T>G	XP_016867228.1:p.Ile385Ser
XM_017011740.1:c.1130T>G	XP_016867229.1:p.Ile377Ser