Canonical Allele Identifier: CA834512189

Gene: CLCN1

Linked Data

• dbSNP Id: rs1387553992
• gnomAD v3: 7-143330971-TG-T
• gnomAD v4: 7-143330971-TG-T
• MyVariant Identifiers: chr7:g.143028065del (hg19) ; chr7:g.143330972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330975del , CM000669.2:g.143330975del	GRCh38
NC_000007.13:g.143028068del , CM000669.1:g.143028068del	GRCh37
NC_000007.12:g.142738190del	NCBI36
NG_009815.1:g.19850del
NG_009815.2:g.19850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+78del	ENSP00000498052.2:n.979+78del
ENST00000343257.7:c.979+78del MANE Select	ENSP00000339867.2:n.979+78del
ENST00000432192.6:c.803+78del
ENST00000343257.6:c.979+78del	ENSP00000339867.2:n.979+78del
NM_000083.2:c.979+78del	NP_000074.2:n.979+78del
NR_046453.1:n.1069+78del
XM_011515781.1:c.979+78del	XP_011514083.1:n.979+78del
XM_017011739.1:c.529+78del	XP_016867228.1:n.529+78del
XM_017011740.1:c.529+78del	XP_016867229.1:n.529+78del
NM_000083.3:c.979+78del MANE Select	NP_000074.3:n.979+78del
NR_046453.2:n.1084+78del