Canonical Allele Identifier: CA127249
Gene: CLCN1 HGNC NCBI

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
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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
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