Canonical Allele Identifier: CA1748889817

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332866T= , CM000669.2:g.143332866T=	GRCh38
NC_000007.13:g.143029959T= , CM000669.1:g.143029959T=	GRCh37
NC_000007.12:g.142740081T=	NCBI36
NG_009815.1:g.21741T=
NG_009815.2:g.21741T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1394T=	ENSP00000498052.2:p.Val465=
ENST00000343257.7:c.1394T= MANE Select	ENSP00000339867.2:p.Val465=
ENST00000432192.6:c.1218T=
ENST00000343257.6:c.1394T=	ENSP00000339867.2:p.Val465=
NM_000083.2:c.1394T=	NP_000074.2:p.Val465=
NR_046453.1:n.1341+363T=
XM_011515781.1:c.1418T=	XP_011514083.1:p.Val473=
XM_011515782.1:c.140T=	XP_011514084.1:p.Val47=
XM_011515782.2:c.140T=	XP_011514084.1:p.Val47=
XM_017011739.1:c.968T=	XP_016867228.1:p.Val323=
XM_017011740.1:c.944T=	XP_016867229.1:p.Val315=
NM_000083.3:c.1394T= MANE Select	NP_000074.3:p.Val465=
NR_046453.2:n.1356+363T=