Canonical Allele Identifier: CA1748884284

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324491A= , CM000669.2:g.143324491A=	GRCh38
NC_000007.13:g.143021584A= , CM000669.1:g.143021584A=	GRCh37
NC_000007.12:g.142731706A=	NCBI36
NG_009815.1:g.13366A=
NG_009815.2:g.13366A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+594A=	ENSP00000498052.2:n.853+594A=
ENST00000343257.7:c.852A= MANE Select	ENSP00000339867.2:p.Gly284=
ENST00000432192.6:c.676A=
ENST00000455478.6:c.440A=	ENSP00000400027.2:n.440A=
ENST00000650516.1:c.853+594A=	ENSP00000498052.1:n.853+594A=
ENST00000343257.6:c.852A=	ENSP00000339867.2:p.Gly284=
ENST00000432192.5:c.366A=
ENST00000455478.5:c.444A=
ENST00000495612.1:n.154+2643A=
NM_000083.2:c.852A=	NP_000074.2:p.Gly284=
NR_046453.1:n.942A=
XM_011515781.1:c.853+594A=	XP_011514083.1:n.853+594A=
XM_017011739.1:c.403+2643A=	XP_016867228.1:n.403+2643A=
XM_017011740.1:c.403+2643A=	XP_016867229.1:n.403+2643A=
NM_000083.3:c.852A= MANE Select	NP_000074.3:p.Gly284=
NR_046453.2:n.957A=