Canonical Allele Identifier: CA369641718

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330883G>A , CM000669.2:g.143330883G>A	GRCh38
NC_000007.13:g.143027976G>A , CM000669.1:g.143027976G>A	GRCh37
NC_000007.12:g.142738098G>A	NCBI36
NG_009815.1:g.19758G>A
NG_009815.2:g.19758G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.965G>A MANE Select	NP_000074.3:p.Trp322Ter
ENST00000343257.7:c.965G>A MANE Select	ENSP00000339867.2:p.Trp322Ter
NM_000083.2:c.965G>A	NP_000074.2:p.Trp322Ter
NR_046453.1:n.1055G>A
NR_046453.2:n.1070G>A
ENST00000343257.6:c.965G>A	ENSP00000339867.2:p.Trp322Ter
ENST00000432192.5:c.479G>A
ENST00000432192.6:c.789G>A
ENST00000455478.5:c.557G>A
ENST00000455478.6:c.553G>A	ENSP00000400027.2:n.553G>A
ENST00000495612.1:n.266G>A
ENST00000650516.1:c.965G>A	ENSP00000498052.1:p.Trp322Ter
ENST00000650516.2:c.965G>A	ENSP00000498052.2:p.Trp322Ter
XM_011515781.1:c.965G>A	XP_011514083.1:p.Trp322Ter
XM_017011739.1:c.515G>A	XP_016867228.1:p.Trp172Ter
XM_017011740.1:c.515G>A	XP_016867229.1:p.Trp172Ter