Canonical Allele Identifier: CA4537809
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1570357
ClinVar RCV Id: RCV002215309
dbSNP Id: rs779694767
ExAC: 7:143048966 A / G
gnomAD v2: 7-143048966-A-G
gnomAD v3: 7-143351873-A-G
gnomAD v4: 7-143351873-A-G
MyVariant Identifiers: chr7:g.143048966A>G (hg19) chr7:g.143351873A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351873A>G , CM000669.2:g.143351873A>G GRCh38
NC_000007.13:g.143048966A>G , CM000669.1:g.143048966A>G GRCh37
NC_000007.12:g.142759088A>G NCBI36
NG_009815.1:g.40748A>G
NG_009815.2:g.40748A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2875A>G ENSP00000498052.2:p.Ser959Gly
ENST00000343257.7:c.2875A>G MANE Select ENSP00000339867.2:p.Ser959Gly
ENST00000343257.6:c.2875A>G ENSP00000339867.2:p.Ser959Gly
NM_000083.2:c.2875A>G NP_000074.2:p.Ser959Gly
NR_046453.1:n.2815A>G
XM_011515781.1:c.2899A>G XP_011514083.1:p.Ser967Gly
XM_011515782.1:c.1621A>G XP_011514084.1:p.Ser541Gly
XM_011515782.2:c.1621A>G XP_011514084.1:p.Ser541Gly
XM_017011739.1:c.2449A>G XP_016867228.1:p.Ser817Gly
XM_017011740.1:c.2425A>G XP_016867229.1:p.Ser809Gly
NM_000083.3:c.2875A>G MANE Select NP_000074.3:p.Ser959Gly
NR_046453.2:n.2830A>G
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