Canonical Allele Identifier: CA1748881757

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321782A= , CM000669.2:g.143321782A=	GRCh38
NC_000007.13:g.143018875A= , CM000669.1:g.143018875A=	GRCh37
NC_000007.12:g.142728997A=	NCBI36
NG_009815.1:g.10657A=
NG_009815.2:g.10657A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.630A=	ENSP00000498052.2:p.Lys210=
ENST00000343257.7:c.630A= MANE Select	ENSP00000339867.2:p.Lys210=
ENST00000432192.6:c.398A=
ENST00000455478.6:c.84A=	ENSP00000400027.2:p.Lys28=
ENST00000650516.1:c.630A=	ENSP00000498052.1:p.Lys210=
ENST00000343257.6:c.630A=	ENSP00000339867.2:p.Lys210=
ENST00000432192.5:c.88A=
ENST00000455478.5:c.88A=
ENST00000495612.1:n.88A=
NM_000083.2:c.630A=	NP_000074.2:p.Lys210=
NR_046453.1:n.717A=
XM_011515781.1:c.630A=	XP_011514083.1:p.Lys210=
XM_017011739.1:c.337A=	XP_016867228.1:p.Ser113=
XM_017011740.1:c.337A=	XP_016867229.1:p.Ser113=
NM_000083.3:c.630A= MANE Select	NP_000074.3:p.Lys210=
NR_046453.2:n.732A=