Canonical Allele Identifier: CA2573141798

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1454866
• ClinVar RCV Id: RCV001942088
• dbSNP Id: rs2116855121
• gnomAD v4: 7-143332739-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332741dup , CM000669.2:g.143332741dup	GRCh38
NC_000007.13:g.143029834dup , CM000669.1:g.143029834dup	GRCh37
NC_000007.12:g.142739956dup	NCBI36
NG_009815.1:g.21616dup
NG_009815.2:g.21616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1269dup	ENSP00000498052.2:p.Ile424HisfsTer6
ENST00000343257.7:c.1269dup MANE Select	ENSP00000339867.2:p.Ile424HisfsTer6
ENST00000432192.6:c.1093dup
ENST00000343257.6:c.1269dup	ENSP00000339867.2:p.Ile424HisfsTer6
NM_000083.2:c.1269dup	NP_000074.2:p.Ile424HisfsTer6
NR_046453.1:n.1341+238dup
XM_011515781.1:c.1293dup	XP_011514083.1:p.Ile432HisfsTer6
XM_011515782.1:c.15dup	XP_011514084.1:p.Ile6HisfsTer6
XM_011515782.2:c.15dup	XP_011514084.1:p.Ile6HisfsTer6
XM_017011739.1:c.843dup	XP_016867228.1:p.Ile282HisfsTer6
XM_017011740.1:c.819dup	XP_016867229.1:p.Ile274HisfsTer6
NM_000083.3:c.1269dup MANE Select	NP_000074.3:p.Ile424HisfsTer6
NR_046453.2:n.1356+238dup