Canonical Allele Identifier: CA369645930

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339607G>A , CM000669.2:g.143339607G>A	GRCh38
NC_000007.13:g.143036700G>A , CM000669.1:g.143036700G>A	GRCh37
NC_000007.12:g.142746822G>A	NCBI36
NG_009815.1:g.28482G>A
NG_009815.2:g.28482G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1568G>A MANE Select	NP_000074.3:p.Gly523Asp
ENST00000343257.7:c.1568G>A MANE Select	ENSP00000339867.2:p.Gly523Asp
NM_000083.2:c.1568G>A	NP_000074.2:p.Gly523Asp
NR_046453.1:n.1508G>A
NR_046453.2:n.1523G>A
ENST00000343257.6:c.1568G>A	ENSP00000339867.2:p.Gly523Asp
ENST00000432192.6:c.1392G>A
ENST00000650516.2:c.1568G>A	ENSP00000498052.2:p.Gly523Asp
XM_011515781.1:c.1592G>A	XP_011514083.1:p.Gly531Asp
XM_011515782.1:c.314G>A	XP_011514084.1:p.Gly105Asp
XM_011515782.2:c.314G>A	XP_011514084.1:p.Gly105Asp
XM_017011739.1:c.1142G>A	XP_016867228.1:p.Gly381Asp
XM_017011740.1:c.1118G>A	XP_016867229.1:p.Gly373Asp