Canonical Allele Identifier: CA1748898290

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351701A= , CM000669.2:g.143351701A=	GRCh38
NC_000007.13:g.143048794A= , CM000669.1:g.143048794A=	GRCh37
NC_000007.12:g.142758916A=	NCBI36
NG_009815.1:g.40576A=
NG_009815.2:g.40576A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2703A=	ENSP00000498052.2:p.Pro901=
ENST00000343257.7:c.2703A= MANE Select	ENSP00000339867.2:p.Pro901=
ENST00000432192.6:c.2527A=
ENST00000343257.6:c.2703A=	ENSP00000339867.2:p.Pro901=
NM_000083.2:c.2703A=	NP_000074.2:p.Pro901=
NR_046453.1:n.2643A=
XM_011515781.1:c.2727A=	XP_011514083.1:p.Pro909=
XM_011515782.1:c.1449A=	XP_011514084.1:p.Pro483=
XM_011515782.2:c.1449A=	XP_011514084.1:p.Pro483=
XM_017011739.1:c.2277A=	XP_016867228.1:p.Pro759=
XM_017011740.1:c.2253A=	XP_016867229.1:p.Pro751=
NM_000083.3:c.2703A= MANE Select	NP_000074.3:p.Pro901=
NR_046453.2:n.2658A=