Canonical Allele Identifier: CA1748893921

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341961A= , CM000669.2:g.143341961A=	GRCh38
NC_000007.13:g.143039054A= , CM000669.1:g.143039054A=	GRCh37
NC_000007.12:g.142749176A=	NCBI36
NG_009815.1:g.30836A=
NG_009815.2:g.30836A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1615A=	ENSP00000498052.2:p.Thr539=
ENST00000343257.7:c.1615A= MANE Select	ENSP00000339867.2:p.Thr539=
ENST00000432192.6:c.1439A=
ENST00000343257.6:c.1615A=	ENSP00000339867.2:p.Thr539=
NM_000083.2:c.1615A=	NP_000074.2:p.Thr539=
NR_046453.1:n.1555A=
XM_011515781.1:c.1639A=	XP_011514083.1:p.Thr547=
XM_011515782.1:c.361A=	XP_011514084.1:p.Thr121=
XM_011515782.2:c.361A=	XP_011514084.1:p.Thr121=
XM_017011739.1:c.1189A=	XP_016867228.1:p.Thr397=
XM_017011740.1:c.1165A=	XP_016867229.1:p.Thr389=
NM_000083.3:c.1615A= MANE Select	NP_000074.3:p.Thr539=
NR_046453.2:n.1570A=