Canonical Allele Identifier: CA127249

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17538
• ClinVar RCV Id: RCV000019090 ; RCV000020103 ; RCV000498537 ; RCV000685420 ; RCV001253100
• dbSNP Id: rs80356696
• gnomAD v3: 7-143342001-A-G
• gnomAD v4: 7-143342001-A-G
• MyVariant Identifiers: chr7:g.143039094A>G (hg19) ; chr7:g.143342001A>G (hg38)
• PubMed: PMID:7581380 ; PMID:8845168 ; PMID:9736777 ; PMID:12456816 ; PMID:20301529

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342001A>G , CM000669.2:g.143342001A>G	GRCh38
NC_000007.13:g.143039094A>G , CM000669.1:g.143039094A>G	GRCh37
NC_000007.12:g.142749216A>G	NCBI36
NG_009815.1:g.30876A>G
NG_009815.2:g.30876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1655A>G	ENSP00000498052.2:p.Gln552Arg
ENST00000343257.7:c.1655A>G MANE Select	ENSP00000339867.2:p.Gln552Arg
ENST00000432192.6:c.1479A>G
ENST00000343257.6:c.1655A>G	ENSP00000339867.2:p.Gln552Arg
NM_000083.2:c.1655A>G	NP_000074.2:p.Gln552Arg
NR_046453.1:n.1595A>G
XM_011515781.1:c.1679A>G	XP_011514083.1:p.Gln560Arg
XM_011515782.1:c.401A>G	XP_011514084.1:p.Gln134Arg
XM_011515782.2:c.401A>G	XP_011514084.1:p.Gln134Arg
XM_017011739.1:c.1229A>G	XP_016867228.1:p.Gln410Arg
XM_017011740.1:c.1205A>G	XP_016867229.1:p.Gln402Arg
NM_000083.3:c.1655A>G MANE Select	NP_000074.3:p.Gln552Arg
NR_046453.2:n.1610A>G