Canonical Allele Identifier: CA1748893859

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803083412
• gnomAD v4: 7-143341792-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341794del , CM000669.2:g.143341794del	GRCh38
NC_000007.13:g.143038887del , CM000669.1:g.143038887del	GRCh37
NC_000007.12:g.142749009del	NCBI36
NG_009815.1:g.30669del
NG_009815.2:g.30669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-135del	ENSP00000498052.2:n.1583-135del
ENST00000343257.7:c.1583-135del MANE Select	ENSP00000339867.2:n.1583-135del
ENST00000432192.6:c.1407-135del
ENST00000343257.6:c.1583-135del	ENSP00000339867.2:n.1583-135del
NM_000083.2:c.1583-135del	NP_000074.2:n.1583-135del
NR_046453.1:n.1523-135del
XM_011515781.1:c.1607-135del	XP_011514083.1:n.1607-135del
XM_011515782.1:c.329-135del	XP_011514084.1:n.329-135del
XM_011515782.2:c.329-135del	XP_011514084.1:n.329-135del
XM_017011739.1:c.1157-135del	XP_016867228.1:n.1157-135del
XM_017011740.1:c.1133-135del	XP_016867229.1:n.1133-135del
NM_000083.3:c.1583-135del MANE Select	NP_000074.3:n.1583-135del
NR_046453.2:n.1538-135del