Canonical Allele Identifier: CA1748889820

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332872A= , CM000669.2:g.143332872A=	GRCh38
NC_000007.13:g.143029965A= , CM000669.1:g.143029965A=	GRCh37
NC_000007.12:g.142740087A=	NCBI36
NG_009815.1:g.21747A=
NG_009815.2:g.21747A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1400A=	ENSP00000498052.2:p.Lys467=
ENST00000343257.7:c.1400A= MANE Select	ENSP00000339867.2:p.Lys467=
ENST00000432192.6:c.1224A=
ENST00000343257.6:c.1400A=	ENSP00000339867.2:p.Lys467=
NM_000083.2:c.1400A=	NP_000074.2:p.Lys467=
NR_046453.1:n.1341+369A=
XM_011515781.1:c.1424A=	XP_011514083.1:p.Lys475=
XM_011515782.1:c.146A=	XP_011514084.1:p.Lys49=
XM_011515782.2:c.146A=	XP_011514084.1:p.Lys49=
XM_017011739.1:c.974A=	XP_016867228.1:p.Lys325=
XM_017011740.1:c.950A=	XP_016867229.1:p.Lys317=
NM_000083.3:c.1400A= MANE Select	NP_000074.3:p.Lys467=
NR_046453.2:n.1356+369A=