Canonical Allele Identifier: CA4537403

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339517C>A , CM000669.2:g.143339517C>A	GRCh38
NC_000007.13:g.143036610C>A , CM000669.1:g.143036610C>A	GRCh37
NC_000007.12:g.142746732C>A	NCBI36
NG_009815.1:g.28392C>A
NG_009815.2:g.28392C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1478C>A MANE Select	NP_000074.3:p.Ala493Glu
ENST00000343257.7:c.1478C>A MANE Select	ENSP00000339867.2:p.Ala493Glu
NM_000083.2:c.1478C>A	NP_000074.2:p.Ala493Glu
NR_046453.1:n.1418C>A
NR_046453.2:n.1433C>A
ENST00000343257.6:c.1478C>A	ENSP00000339867.2:p.Ala493Glu
ENST00000432192.6:c.1302C>A
ENST00000650516.2:c.1478C>A	ENSP00000498052.2:p.Ala493Glu
XM_011515781.1:c.1502C>A	XP_011514083.1:p.Ala501Glu
XM_011515782.1:c.224C>A	XP_011514084.1:p.Ala75Glu
XM_011515782.2:c.224C>A	XP_011514084.1:p.Ala75Glu
XM_017011739.1:c.1052C>A	XP_016867228.1:p.Ala351Glu
XM_017011740.1:c.1028C>A	XP_016867229.1:p.Ala343Glu