Canonical Allele Identifier: CA369641571

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330811C>T , CM000669.2:g.143330811C>T	GRCh38
NC_000007.13:g.143027904C>T , CM000669.1:g.143027904C>T	GRCh37
NC_000007.12:g.142738026C>T	NCBI36
NG_009815.1:g.19686C>T
NG_009815.2:g.19686C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.893C>T MANE Select	NP_000074.3:p.Ala298Val
ENST00000343257.7:c.893C>T MANE Select	ENSP00000339867.2:p.Ala298Val
NM_000083.2:c.893C>T	NP_000074.2:p.Ala298Val
NR_046453.1:n.983C>T
NR_046453.2:n.998C>T
ENST00000343257.6:c.893C>T	ENSP00000339867.2:p.Ala298Val
ENST00000432192.5:c.407C>T
ENST00000432192.6:c.717C>T
ENST00000455478.5:c.485C>T
ENST00000455478.6:c.481C>T	ENSP00000400027.2:n.481C>T
ENST00000495612.1:n.194C>T
ENST00000650516.1:c.893C>T	ENSP00000498052.1:p.Ala298Val
ENST00000650516.2:c.893C>T	ENSP00000498052.2:p.Ala298Val
XM_011515781.1:c.893C>T	XP_011514083.1:p.Ala298Val
XM_017011739.1:c.443C>T	XP_016867228.1:p.Ala148Val
XM_017011740.1:c.443C>T	XP_016867229.1:p.Ala148Val