Canonical Allele Identifier: CA1748898266

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351653C= , CM000669.2:g.143351653C=	GRCh38
NC_000007.13:g.143048746C= , CM000669.1:g.143048746C=	GRCh37
NC_000007.12:g.142758868C=	NCBI36
NG_009815.1:g.40528C=
NG_009815.2:g.40528C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2655C=	ENSP00000498052.2:p.Ala885=
ENST00000343257.7:c.2655C= MANE Select	ENSP00000339867.2:p.Ala885=
ENST00000432192.6:c.2479C=
ENST00000343257.6:c.2655C=	ENSP00000339867.2:p.Ala885=
NM_000083.2:c.2655C=	NP_000074.2:p.Ala885=
NR_046453.1:n.2595C=
XM_011515781.1:c.2679C=	XP_011514083.1:p.Ala893=
XM_011515782.1:c.1401C=	XP_011514084.1:p.Ala467=
XM_011515782.2:c.1401C=	XP_011514084.1:p.Ala467=
XM_017011739.1:c.2229C=	XP_016867228.1:p.Ala743=
XM_017011740.1:c.2205C=	XP_016867229.1:p.Ala735=
NM_000083.3:c.2655C= MANE Select	NP_000074.3:p.Ala885=
NR_046453.2:n.2610C=