Canonical Allele Identifier: CA369645934

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339607G>T , CM000669.2:g.143339607G>T	GRCh38
NC_000007.13:g.143036700G>T , CM000669.1:g.143036700G>T	GRCh37
NC_000007.12:g.142746822G>T	NCBI36
NG_009815.1:g.28482G>T
NG_009815.2:g.28482G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1568G>T MANE Select	NP_000074.3:p.Gly523Val
ENST00000343257.7:c.1568G>T MANE Select	ENSP00000339867.2:p.Gly523Val
NM_000083.2:c.1568G>T	NP_000074.2:p.Gly523Val
NR_046453.1:n.1508G>T
NR_046453.2:n.1523G>T
ENST00000343257.6:c.1568G>T	ENSP00000339867.2:p.Gly523Val
ENST00000432192.6:c.1392G>T
ENST00000650516.2:c.1568G>T	ENSP00000498052.2:p.Gly523Val
XM_011515781.1:c.1592G>T	XP_011514083.1:p.Gly531Val
XM_011515782.1:c.314G>T	XP_011514084.1:p.Gly105Val
XM_011515782.2:c.314G>T	XP_011514084.1:p.Gly105Val
XM_017011739.1:c.1142G>T	XP_016867228.1:p.Gly381Val
XM_017011740.1:c.1118G>T	XP_016867229.1:p.Gly373Val