Canonical Allele Identifier: CA1748889761

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332739G= , CM000669.2:g.143332739G=	GRCh38
NC_000007.13:g.143029832G= , CM000669.1:g.143029832G=	GRCh37
NC_000007.12:g.142739954G=	NCBI36
NG_009815.1:g.21614G=
NG_009815.2:g.21614G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1267G=	ENSP00000498052.2:p.Ala423=
ENST00000343257.7:c.1267G= MANE Select	ENSP00000339867.2:p.Ala423=
ENST00000432192.6:c.1091G=
ENST00000343257.6:c.1267G=	ENSP00000339867.2:p.Ala423=
NM_000083.2:c.1267G=	NP_000074.2:p.Ala423=
NR_046453.1:n.1341+236G=
XM_011515781.1:c.1291G=	XP_011514083.1:p.Ala431=
XM_011515782.1:c.13G=	XP_011514084.1:p.Ala5=
XM_011515782.2:c.13G=	XP_011514084.1:p.Ala5=
XM_017011739.1:c.841G=	XP_016867228.1:p.Ala281=
XM_017011740.1:c.817G=	XP_016867229.1:p.Ala273=
NM_000083.3:c.1267G= MANE Select	NP_000074.3:p.Ala423=
NR_046453.2:n.1356+236G=