Canonical Allele Identifier: CA1748898387

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351899C= , CM000669.2:g.143351899C=	GRCh38
NC_000007.13:g.143048992C= , CM000669.1:g.143048992C=	GRCh37
NC_000007.12:g.142759114C=	NCBI36
NG_009815.1:g.40774C=
NG_009815.2:g.40774C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2901C=	ENSP00000498052.2:p.Ala967=
ENST00000343257.7:c.2901C= MANE Select	ENSP00000339867.2:p.Ala967=
ENST00000343257.6:c.2901C=	ENSP00000339867.2:p.Ala967=
NM_000083.2:c.2901C=	NP_000074.2:p.Ala967=
NR_046453.1:n.2841C=
XM_011515781.1:c.2925C=	XP_011514083.1:p.Ala975=
XM_011515782.1:c.1647C=	XP_011514084.1:p.Ala549=
XM_011515782.2:c.1647C=	XP_011514084.1:p.Ala549=
XM_017011739.1:c.2475C=	XP_016867228.1:p.Ala825=
XM_017011740.1:c.2451C=	XP_016867229.1:p.Ala817=
NM_000083.3:c.2901C= MANE Select	NP_000074.3:p.Ala967=
NR_046453.2:n.2856C=