Canonical Allele Identifier: CA369650835

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345762G>C , CM000669.2:g.143345762G>C	GRCh38
NC_000007.13:g.143042855G>C , CM000669.1:g.143042855G>C	GRCh37
NC_000007.12:g.142752977G>C	NCBI36
NG_009815.1:g.34637G>C
NG_009815.2:g.34637G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2172G>C MANE Select	NP_000074.3:p.Glu724Asp
ENST00000343257.7:c.2172G>C MANE Select	ENSP00000339867.2:p.Glu724Asp
NM_000083.2:c.2172G>C	NP_000074.2:p.Glu724Asp
NR_046453.1:n.2112G>C
NR_046453.2:n.2127G>C
ENST00000343257.6:c.2172G>C	ENSP00000339867.2:p.Glu724Asp
ENST00000432192.6:c.1996G>C
ENST00000650516.2:c.2172G>C	ENSP00000498052.2:p.Glu724Asp
XM_011515781.1:c.2196G>C	XP_011514083.1:p.Glu732Asp
XM_011515782.1:c.918G>C	XP_011514084.1:p.Glu306Asp
XM_011515782.2:c.918G>C	XP_011514084.1:p.Glu306Asp
XM_017011739.1:c.1746G>C	XP_016867228.1:p.Glu582Asp
XM_017011740.1:c.1722G>C	XP_016867229.1:p.Glu574Asp