Canonical Allele Identifier: CA1748898321

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351770T= , CM000669.2:g.143351770T=	GRCh38
NC_000007.13:g.143048863T= , CM000669.1:g.143048863T=	GRCh37
NC_000007.12:g.142758985T=	NCBI36
NG_009815.1:g.40645T=
NG_009815.2:g.40645T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2772T=	ENSP00000498052.2:p.Ala924=
ENST00000343257.7:c.2772T= MANE Select	ENSP00000339867.2:p.Ala924=
ENST00000343257.6:c.2772T=	ENSP00000339867.2:p.Ala924=
NM_000083.2:c.2772T=	NP_000074.2:p.Ala924=
NR_046453.1:n.2712T=
XM_011515781.1:c.2796T=	XP_011514083.1:p.Ala932=
XM_011515782.1:c.1518T=	XP_011514084.1:p.Ala506=
XM_011515782.2:c.1518T=	XP_011514084.1:p.Ala506=
XM_017011739.1:c.2346T=	XP_016867228.1:p.Ala782=
XM_017011740.1:c.2322T=	XP_016867229.1:p.Ala774=
NM_000083.3:c.2772T= MANE Select	NP_000074.3:p.Ala924=
NR_046453.2:n.2727T=