Canonical Allele Identifier: CA4537842
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs750338574
ExAC: 7:143049141 T / G
gnomAD v2: 7-143049141-T-G
gnomAD v4: 7-143352048-T-G
MyVariant Identifiers: chr7:g.143049141T>G (hg19) chr7:g.143352048T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352048T>G , CM000669.2:g.143352048T>G GRCh38
NC_000007.13:g.143049141T>G , CM000669.1:g.143049141T>G GRCh37
NC_000007.12:g.142759263T>G NCBI36
NG_009815.1:g.40923T>G
NG_009815.2:g.40923T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*83T>G ENSP00000498052.2:n.*83T>G
ENST00000343257.7:c.*83T>G MANE Select ENSP00000339867.2:n.*83T>G
ENST00000343257.6:c.*83T>G ENSP00000339867.2:n.*83T>G
XM_011515781.1:c.*83T>G XP_011514083.1:n.*83T>G
XM_011515782.1:c.*83T>G XP_011514084.1:n.*83T>G
NM_000083.3:c.*83T>G MANE Select NP_000074.3:n.*83T>G
NR_046453.2:n.3005T>G
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