Canonical Allele Identifier: CA1748881492

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321627C= , CM000669.2:g.143321627C=	GRCh38
NC_000007.13:g.143018720C= , CM000669.1:g.143018720C=	GRCh37
NC_000007.12:g.142728842C=	NCBI36
NG_009815.1:g.10502C=
NG_009815.2:g.10502C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.563-88C=	ENSP00000498052.2:n.563-88C=
ENST00000343257.7:c.563-88C= MANE Select	ENSP00000339867.2:n.563-88C=
ENST00000432192.6:c.331-88C=
ENST00000455478.6:c.17-88C=	ENSP00000400027.2:n.17-88C=
ENST00000650516.1:c.563-88C=	ENSP00000498052.1:n.563-88C=
ENST00000343257.6:c.563-88C=	ENSP00000339867.2:n.563-88C=
ENST00000432192.5:c.21-88C=
ENST00000455478.5:c.21-88C=
ENST00000495612.1:n.21-88C=
NM_000083.2:c.563-88C=	NP_000074.2:n.563-88C=
NR_046453.1:n.650-88C=
XM_011515781.1:c.563-88C=	XP_011514083.1:n.563-88C=
XM_017011739.1:c.270-88C=	XP_016867228.1:n.270-88C=
XM_017011740.1:c.270-88C=	XP_016867229.1:n.270-88C=
NM_000083.3:c.563-88C= MANE Select	NP_000074.3:n.563-88C=
NR_046453.2:n.665-88C=