Canonical Allele Identifier: CA2573141799

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1449054
• ClinVar RCV Id: RCV002012305
• dbSNP Id: rs2116855161

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332753del , CM000669.2:g.143332753del	GRCh38
NC_000007.13:g.143029846del , CM000669.1:g.143029846del	GRCh37
NC_000007.12:g.142739968del	NCBI36
NG_009815.1:g.21628del
NG_009815.2:g.21628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1281del	ENSP00000498052.2:p.Leu427PhefsTer8
ENST00000343257.7:c.1281del MANE Select	ENSP00000339867.2:p.Leu427PhefsTer8
ENST00000432192.6:c.1105del
ENST00000343257.6:c.1281del	ENSP00000339867.2:p.Leu427PhefsTer8
NM_000083.2:c.1281del	NP_000074.2:p.Leu427PhefsTer8
NR_046453.1:n.1341+250del
XM_011515781.1:c.1305del	XP_011514083.1:p.Leu435PhefsTer8
XM_011515782.1:c.27del	XP_011514084.1:p.Leu9PhefsTer8
XM_011515782.2:c.27del	XP_011514084.1:p.Leu9PhefsTer8
XM_017011739.1:c.855del	XP_016867228.1:p.Leu285PhefsTer8
XM_017011740.1:c.831del	XP_016867229.1:p.Leu277PhefsTer8
NM_000083.3:c.1281del MANE Select	NP_000074.3:p.Leu427PhefsTer8
NR_046453.2:n.1356+250del