Canonical Allele Identifier: CA1748897763

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350658A= , CM000669.2:g.143350658A=	GRCh38
NC_000007.13:g.143047751A= , CM000669.1:g.143047751A=	GRCh37
NC_000007.12:g.142757873A=	NCBI36
NG_009815.1:g.39533A=
NG_009815.2:g.39533A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2595+4A=	ENSP00000498052.2:n.2595+4A=
ENST00000343257.7:c.2595+4A= MANE Select	ENSP00000339867.2:n.2595+4A=
ENST00000432192.6:c.2419+4A=
ENST00000343257.6:c.2595+4A=	ENSP00000339867.2:n.2595+4A=
NM_000083.2:c.2595+4A=	NP_000074.2:n.2595+4A=
NR_046453.1:n.2535+4A=
XM_011515781.1:c.2619+4A=	XP_011514083.1:n.2619+4A=
XM_011515782.1:c.1341+4A=	XP_011514084.1:n.1341+4A=
XM_011515782.2:c.1341+4A=	XP_011514084.1:n.1341+4A=
XM_017011739.1:c.2169+4A=	XP_016867228.1:n.2169+4A=
XM_017011740.1:c.2145+4A=	XP_016867229.1:n.2145+4A=
NM_000083.3:c.2595+4A= MANE Select	NP_000074.3:n.2595+4A=
NR_046453.2:n.2550+4A=