Canonical Allele Identifier: CA1748881384

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321509C= , CM000669.2:g.143321509C=	GRCh38
NC_000007.13:g.143018602C= , CM000669.1:g.143018602C=	GRCh37
NC_000007.12:g.142728724C=	NCBI36
NG_009815.1:g.10384C=
NG_009815.2:g.10384C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+16C=	ENSP00000498052.2:n.562+16C=
ENST00000343257.7:c.562+16C= MANE Select	ENSP00000339867.2:n.562+16C=
ENST00000432192.6:c.330+16C=
ENST00000455478.6:c.16+16C=	ENSP00000400027.2:n.16+16C=
ENST00000650516.1:c.562+16C=	ENSP00000498052.1:n.562+16C=
ENST00000343257.6:c.562+16C=	ENSP00000339867.2:n.562+16C=
ENST00000432192.5:c.20+16C=
ENST00000455478.5:c.20+16C=
ENST00000495612.1:n.20+16C=
NM_000083.2:c.562+16C=	NP_000074.2:n.562+16C=
NR_046453.1:n.649+16C=
XM_011515781.1:c.562+16C=	XP_011514083.1:n.562+16C=
XM_017011739.1:c.269+16C=	XP_016867228.1:n.269+16C=
XM_017011740.1:c.269+16C=	XP_016867229.1:n.269+16C=
NM_000083.3:c.562+16C= MANE Select	NP_000074.3:n.562+16C=
NR_046453.2:n.664+16C=