Canonical Allele Identifier: CA658657730

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 447055
• ClinVar RCV Id: RCV001041972 ; RCV000517996
• dbSNP Id: rs1554438432
• gnomAD v4: 7-143341957-CCA-C
• MyVariant Identifiers: chr7:g.143039055_143039056del (hg19) ; chr7:g.143341962_143341963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341962_143341963del , CM000669.2:g.143341962_143341963del	GRCh38
NC_000007.13:g.143039055_143039056del , CM000669.1:g.143039055_143039056del	GRCh37
NC_000007.12:g.142749177_142749178del	NCBI36
NG_009815.1:g.30837_30838del
NG_009815.2:g.30837_30838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1616_1617del	ENSP00000498052.2:p.Thr539SerfsTer?
ENST00000343257.7:c.1616_1617del MANE Select	ENSP00000339867.2:p.Thr539SerfsTer?
ENST00000432192.6:c.1440_1441del
ENST00000343257.6:c.1616_1617del	ENSP00000339867.2:p.Thr539SerfsTer?
NM_000083.2:c.1616_1617del	NP_000074.2:p.Thr539SerfsTer?
NR_046453.1:n.1556_1557del
XM_011515781.1:c.1640_1641del	XP_011514083.1:p.Thr547SerfsTer?
XM_011515782.1:c.362_363del	XP_011514084.1:p.Thr121SerfsTer?
XM_011515782.2:c.362_363del	XP_011514084.1:p.Thr121SerfsTer?
XM_017011739.1:c.1190_1191del	XP_016867228.1:p.Thr397SerfsTer?
XM_017011740.1:c.1166_1167del	XP_016867229.1:p.Thr389SerfsTer?
NM_000083.3:c.1616_1617del MANE Select	NP_000074.3:p.Thr539SerfsTer?
NR_046453.2:n.1571_1572del