Canonical Allele Identifier: CA369646513

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342012A>T , CM000669.2:g.143342012A>T	GRCh38
NC_000007.13:g.143039105A>T , CM000669.1:g.143039105A>T	GRCh37
NC_000007.12:g.142749227A>T	NCBI36
NG_009815.1:g.30887A>T
NG_009815.2:g.30887A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1666A>T MANE Select	NP_000074.3:p.Ile556Phe
ENST00000343257.7:c.1666A>T MANE Select	ENSP00000339867.2:p.Ile556Phe
NM_000083.2:c.1666A>T	NP_000074.2:p.Ile556Phe
NR_046453.1:n.1606A>T
NR_046453.2:n.1621A>T
ENST00000343257.6:c.1666A>T	ENSP00000339867.2:p.Ile556Phe
ENST00000432192.6:c.1490A>T
ENST00000650516.2:c.1666A>T	ENSP00000498052.2:p.Ile556Phe
XM_011515781.1:c.1690A>T	XP_011514083.1:p.Ile564Phe
XM_011515782.1:c.412A>T	XP_011514084.1:p.Ile138Phe
XM_011515782.2:c.412A>T	XP_011514084.1:p.Ile138Phe
XM_017011739.1:c.1240A>T	XP_016867228.1:p.Ile414Phe
XM_017011740.1:c.1216A>T	XP_016867229.1:p.Ile406Phe