Canonical Allele Identifier: CA369641787

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331243G>A , CM000669.2:g.143331243G>A	GRCh38
NC_000007.13:g.143028336G>A , CM000669.1:g.143028336G>A	GRCh37
NC_000007.12:g.142738458G>A	NCBI36
NG_009815.1:g.20118G>A
NG_009815.2:g.20118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.991G>A MANE Select	NP_000074.3:p.Ala331Thr
ENST00000343257.7:c.991G>A MANE Select	ENSP00000339867.2:p.Ala331Thr
NM_000083.2:c.991G>A	NP_000074.2:p.Ala331Thr
NR_046453.1:n.1081G>A
NR_046453.2:n.1096G>A
ENST00000343257.6:c.991G>A	ENSP00000339867.2:p.Ala331Thr
ENST00000432192.6:c.815G>A
ENST00000650516.2:c.991G>A	ENSP00000498052.2:p.Ala331Thr
XM_011515781.1:c.991G>A	XP_011514083.1:p.Ala331Thr
XM_017011739.1:c.541G>A	XP_016867228.1:p.Ala181Thr
XM_017011740.1:c.541G>A	XP_016867229.1:p.Ala181Thr