Canonical Allele Identifier: CA369650185

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345652G>T , CM000669.2:g.143345652G>T	GRCh38
NC_000007.13:g.143042745G>T , CM000669.1:g.143042745G>T	GRCh37
NC_000007.12:g.142752867G>T	NCBI36
NG_009815.1:g.34527G>T
NG_009815.2:g.34527G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2062G>T MANE Select	NP_000074.3:p.Gly688Trp
ENST00000343257.7:c.2062G>T MANE Select	ENSP00000339867.2:p.Gly688Trp
NM_000083.2:c.2062G>T	NP_000074.2:p.Gly688Trp
NR_046453.1:n.2002G>T
NR_046453.2:n.2017G>T
ENST00000343257.6:c.2062G>T	ENSP00000339867.2:p.Gly688Trp
ENST00000432192.6:c.1886G>T
ENST00000650516.2:c.2062G>T	ENSP00000498052.2:p.Gly688Trp
XM_011515781.1:c.2086G>T	XP_011514083.1:p.Gly696Trp
XM_011515782.1:c.808G>T	XP_011514084.1:p.Gly270Trp
XM_011515782.2:c.808G>T	XP_011514084.1:p.Gly270Trp
XM_017011739.1:c.1636G>T	XP_016867228.1:p.Gly546Trp
XM_017011740.1:c.1612G>T	XP_016867229.1:p.Gly538Trp