Canonical Allele Identifier: CA4537074

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323386G>A , CM000669.2:g.143323386G>A	GRCh38
NC_000007.13:g.143020479G>A , CM000669.1:g.143020479G>A	GRCh37
NC_000007.12:g.142730601G>A	NCBI36
NG_009815.1:g.12261G>A
NG_009815.2:g.12261G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.774G>A MANE Select	NP_000074.3:p.Glu258=
ENST00000343257.7:c.774G>A MANE Select	ENSP00000339867.2:p.Glu258=
NM_000083.2:c.774G>A	NP_000074.2:p.Glu258=
NR_046453.1:n.861G>A
NR_046453.2:n.876G>A
ENST00000343257.6:c.774G>A	ENSP00000339867.2:p.Glu258=
ENST00000432192.5:c.155-187G>A
ENST00000432192.6:c.465-187G>A
ENST00000455478.5:c.232G>A
ENST00000455478.6:c.228G>A	ENSP00000400027.2:p.Glu76=
ENST00000495612.1:n.154+1538G>A
ENST00000650516.1:c.774G>A	ENSP00000498052.1:p.Glu258=
ENST00000650516.2:c.774G>A	ENSP00000498052.2:p.Glu258=
XM_011515781.1:c.774G>A	XP_011514083.1:p.Glu258=
XM_017011739.1:c.403+1538G>A	XP_016867228.1:n.403+1538G>A
XM_017011740.1:c.403+1538G>A	XP_016867229.1:n.403+1538G>A