Canonical Allele Identifier: CA369641601

Gene: CLCN1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330827G>A , CM000669.2:g.143330827G>A	GRCh38
NC_000007.13:g.143027920G>A , CM000669.1:g.143027920G>A	GRCh37
NC_000007.12:g.142738042G>A	NCBI36
NG_009815.1:g.19702G>A
NG_009815.2:g.19702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.909G>A	ENSP00000498052.2:p.Trp303Ter
ENST00000343257.7:c.909G>A MANE Select	ENSP00000339867.2:p.Trp303Ter
ENST00000432192.6:c.733G>A
ENST00000455478.6:c.497G>A	ENSP00000400027.2:n.497G>A
ENST00000650516.1:c.909G>A	ENSP00000498052.1:p.Trp303Ter
ENST00000343257.6:c.909G>A	ENSP00000339867.2:p.Trp303Ter
ENST00000432192.5:c.423G>A
ENST00000455478.5:c.501G>A
ENST00000495612.1:n.210G>A
NM_000083.2:c.909G>A	NP_000074.2:p.Trp303Ter
NR_046453.1:n.999G>A
XM_011515781.1:c.909G>A	XP_011514083.1:p.Trp303Ter
XM_017011739.1:c.459G>A	XP_016867228.1:p.Trp153Ter
XM_017011740.1:c.459G>A	XP_016867229.1:p.Trp153Ter
NM_000083.3:c.909G>A MANE Select	NP_000074.3:p.Trp303Ter
NR_046453.2:n.1014G>A