Canonical Allele Identifier: CA2685380078

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143341983-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341984del , CM000669.2:g.143341984del	GRCh38
NC_000007.13:g.143039077del , CM000669.1:g.143039077del	GRCh37
NC_000007.12:g.142749199del	NCBI36
NG_009815.1:g.30859del
NG_009815.2:g.30859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1638del	ENSP00000498052.2:p.Phe547SerfsTer3
ENST00000343257.7:c.1638del MANE Select	ENSP00000339867.2:p.Phe547SerfsTer3
ENST00000432192.6:c.1462del
ENST00000343257.6:c.1638del	ENSP00000339867.2:p.Phe547SerfsTer3
NM_000083.2:c.1638del	NP_000074.2:p.Phe547SerfsTer3
NR_046453.1:n.1578del
XM_011515781.1:c.1662del	XP_011514083.1:p.Phe555SerfsTer3
XM_011515782.1:c.384del	XP_011514084.1:p.Phe129SerfsTer3
XM_011515782.2:c.384del	XP_011514084.1:p.Phe129SerfsTer3
XM_017011739.1:c.1212del	XP_016867228.1:p.Phe405SerfsTer3
XM_017011740.1:c.1188del	XP_016867229.1:p.Phe397SerfsTer3
NM_000083.3:c.1638del MANE Select	NP_000074.3:p.Phe547SerfsTer3
NR_046453.2:n.1593del