Canonical Allele Identifier: CA369645227

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339258G>A , CM000669.2:g.143339258G>A	GRCh38
NC_000007.13:g.143036351G>A , CM000669.1:g.143036351G>A	GRCh37
NC_000007.12:g.142746473G>A	NCBI36
NG_009815.1:g.28133G>A
NG_009815.2:g.28133G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1407G>A MANE Select	NP_000074.3:p.Trp469Ter
ENST00000343257.7:c.1407G>A MANE Select	ENSP00000339867.2:p.Trp469Ter
NM_000083.2:c.1407G>A	NP_000074.2:p.Trp469Ter
NR_046453.1:n.1347G>A
NR_046453.2:n.1362G>A
ENST00000343257.6:c.1407G>A	ENSP00000339867.2:p.Trp469Ter
ENST00000432192.6:c.1231G>A
ENST00000650516.2:c.1407G>A	ENSP00000498052.2:p.Trp469Ter
XM_011515781.1:c.1431G>A	XP_011514083.1:p.Trp477Ter
XM_011515782.1:c.153G>A	XP_011514084.1:p.Trp51Ter
XM_011515782.2:c.153G>A	XP_011514084.1:p.Trp51Ter
XM_017011739.1:c.981G>A	XP_016867228.1:p.Trp327Ter
XM_017011740.1:c.957G>A	XP_016867229.1:p.Trp319Ter