Canonical Allele Identifier: CA2573141807

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1393878
• ClinVar RCV Id: RCV001898392
• dbSNP Id: rs2116373517

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342137_143342138del , CM000669.2:g.143342137_143342138del	GRCh38
NC_000007.13:g.143039230_143039231del , CM000669.1:g.143039230_143039231del	GRCh37
NC_000007.12:g.142749352_142749353del	NCBI36
NG_009815.1:g.31012_31013del
NG_009815.2:g.31012_31013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1791_1792del	ENSP00000498052.2:p.Gln597HisfsTer9
ENST00000343257.7:c.1791_1792del MANE Select	ENSP00000339867.2:p.Gln597HisfsTer9
ENST00000432192.6:c.1615_1616del
ENST00000343257.6:c.1791_1792del	ENSP00000339867.2:p.Gln597HisfsTer9
NM_000083.2:c.1791_1792del	NP_000074.2:p.Gln597HisfsTer9
NR_046453.1:n.1731_1732del
XM_011515781.1:c.1815_1816del	XP_011514083.1:p.Gln605HisfsTer9
XM_011515782.1:c.537_538del	XP_011514084.1:p.Gln179HisfsTer9
XM_011515782.2:c.537_538del	XP_011514084.1:p.Gln179HisfsTer9
XM_017011739.1:c.1365_1366del	XP_016867228.1:p.Gln455HisfsTer9
XM_017011740.1:c.1341_1342del	XP_016867229.1:p.Gln447HisfsTer9
NM_000083.3:c.1791_1792del MANE Select	NP_000074.3:p.Gln597HisfsTer9
NR_046453.2:n.1746_1747del