Canonical Allele Identifier: CA1748892814

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339371G= , CM000669.2:g.143339371G=	GRCh38
NC_000007.13:g.143036464G= , CM000669.1:g.143036464G=	GRCh37
NC_000007.12:g.142746586G=	NCBI36
NG_009815.1:g.28246G=
NG_009815.2:g.28246G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1471+49G=	ENSP00000498052.2:n.1471+49G=
ENST00000343257.7:c.1471+49G= MANE Select	ENSP00000339867.2:n.1471+49G=
ENST00000432192.6:c.1295+49G=
ENST00000343257.6:c.1471+49G=	ENSP00000339867.2:n.1471+49G=
NM_000083.2:c.1471+49G=	NP_000074.2:n.1471+49G=
NR_046453.1:n.1411+49G=
XM_011515781.1:c.1495+49G=	XP_011514083.1:n.1495+49G=
XM_011515782.1:c.217+49G=	XP_011514084.1:n.217+49G=
XM_011515782.2:c.217+49G=	XP_011514084.1:n.217+49G=
XM_017011739.1:c.1045+49G=	XP_016867228.1:n.1045+49G=
XM_017011740.1:c.1021+49G=	XP_016867229.1:n.1021+49G=
NM_000083.3:c.1471+49G= MANE Select	NP_000074.3:n.1471+49G=
NR_046453.2:n.1426+49G=