Canonical Allele Identifier: CA1748898249

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351621A= , CM000669.2:g.143351621A=	GRCh38
NC_000007.13:g.143048714A= , CM000669.1:g.143048714A=	GRCh37
NC_000007.12:g.142758836A=	NCBI36
NG_009815.1:g.40496A=
NG_009815.2:g.40496A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2623A=	ENSP00000498052.2:p.Lys875=
ENST00000343257.7:c.2623A= MANE Select	ENSP00000339867.2:p.Lys875=
ENST00000432192.6:c.2447A=
ENST00000343257.6:c.2623A=	ENSP00000339867.2:p.Lys875=
NM_000083.2:c.2623A=	NP_000074.2:p.Lys875=
NR_046453.1:n.2563A=
XM_011515781.1:c.2647A=	XP_011514083.1:p.Lys883=
XM_011515782.1:c.1369A=	XP_011514084.1:p.Lys457=
XM_011515782.2:c.1369A=	XP_011514084.1:p.Lys457=
XM_017011739.1:c.2197A=	XP_016867228.1:p.Lys733=
XM_017011740.1:c.2173A=	XP_016867229.1:p.Lys725=
NM_000083.3:c.2623A= MANE Select	NP_000074.3:p.Lys875=
NR_046453.2:n.2578A=