Canonical Allele Identifier: CA4537378

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1322086
• ClinVar RCV Id: RCV001780506
• dbSNP Id: rs756538708
• ExAC: 7:143036399 GC / G
• gnomAD v2: 7-143036399-GC-G
• gnomAD v4: 7-143339306-GC-G
• MyVariant Identifiers: chr7:g.143036400del (hg19) ; chr7:g.143339307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339308del , CM000669.2:g.143339308del	GRCh38
NC_000007.13:g.143036401del , CM000669.1:g.143036401del	GRCh37
NC_000007.12:g.142746523del	NCBI36
NG_009815.1:g.28183del
NG_009815.2:g.28183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1457del	ENSP00000498052.2:p.Pro486LeufsTer5
ENST00000343257.7:c.1457del MANE Select	ENSP00000339867.2:p.Pro486LeufsTer5
ENST00000432192.6:c.1281del
ENST00000343257.6:c.1457del	ENSP00000339867.2:p.Pro486LeufsTer5
NM_000083.2:c.1457del	NP_000074.2:p.Pro486LeufsTer5
NR_046453.1:n.1397del
XM_011515781.1:c.1481del	XP_011514083.1:p.Pro494LeufsTer5
XM_011515782.1:c.203del	XP_011514084.1:p.Pro68LeufsTer5
XM_011515782.2:c.203del	XP_011514084.1:p.Pro68LeufsTer5
XM_017011739.1:c.1031del	XP_016867228.1:p.Pro344LeufsTer5
XM_017011740.1:c.1007del	XP_016867229.1:p.Pro336LeufsTer5
NM_000083.3:c.1457del MANE Select	NP_000074.3:p.Pro486LeufsTer5
NR_046453.2:n.1412del