Canonical Allele Identifier: CA369645518

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339511G>A , CM000669.2:g.143339511G>A	GRCh38
NC_000007.13:g.143036604G>A , CM000669.1:g.143036604G>A	GRCh37
NC_000007.12:g.142746726G>A	NCBI36
NG_009815.1:g.28386G>A
NG_009815.2:g.28386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1472G>A MANE Select	NP_000074.3:p.Gly491Glu
ENST00000343257.7:c.1472G>A MANE Select	ENSP00000339867.2:p.Gly491Glu
NM_000083.2:c.1472G>A	NP_000074.2:p.Gly491Glu
NR_046453.1:n.1412G>A
NR_046453.2:n.1427G>A
ENST00000343257.6:c.1472G>A	ENSP00000339867.2:p.Gly491Glu
ENST00000432192.6:c.1296G>A
ENST00000650516.2:c.1472G>A	ENSP00000498052.2:p.Gly491Glu
XM_011515781.1:c.1496G>A	XP_011514083.1:p.Gly499Glu
XM_011515782.1:c.218G>A	XP_011514084.1:p.Gly73Glu
XM_011515782.2:c.218G>A	XP_011514084.1:p.Gly73Glu
XM_017011739.1:c.1046G>A	XP_016867228.1:p.Gly349Glu
XM_017011740.1:c.1022G>A	XP_016867229.1:p.Gly341Glu