Canonical Allele Identifier: CA1748889668

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332527G= , CM000669.2:g.143332527G=	GRCh38
NC_000007.13:g.143029620G= , CM000669.1:g.143029620G=	GRCh37
NC_000007.12:g.142739742G=	NCBI36
NG_009815.1:g.21402G=
NG_009815.2:g.21402G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+24G=	ENSP00000498052.2:n.1251+24G=
ENST00000343257.7:c.1251+24G= MANE Select	ENSP00000339867.2:n.1251+24G=
ENST00000432192.6:c.1075+24G=
ENST00000343257.6:c.1251+24G=	ENSP00000339867.2:n.1251+24G=
NM_000083.2:c.1251+24G=	NP_000074.2:n.1251+24G=
NR_046453.1:n.1341+24G=
XM_011515781.1:c.1275G=	XP_011514083.1:p.Met425=
XM_011515782.1:c.-3-197G=	XP_011514084.1:n.-3-197G=
XM_011515782.2:c.-3-197G=	XP_011514084.1:n.-3-197G=
XM_017011739.1:c.825G=	XP_016867228.1:p.Met275=
XM_017011740.1:c.801+24G=	XP_016867229.1:n.801+24G=
NM_000083.3:c.1251+24G= MANE Select	NP_000074.3:n.1251+24G=
NR_046453.2:n.1356+24G=