Canonical Allele Identifier: CA4537836
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs776765413
ExAC: 7:143049119 G / T
gnomAD v2: 7-143049119-G-T
gnomAD v4: 7-143352026-G-T
MyVariant Identifiers: chr7:g.143049119G>T (hg19) chr7:g.143352026G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352026G>T , CM000669.2:g.143352026G>T GRCh38
NC_000007.13:g.143049119G>T , CM000669.1:g.143049119G>T GRCh37
NC_000007.12:g.142759241G>T NCBI36
NG_009815.1:g.40901G>T
NG_009815.2:g.40901G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*61G>T ENSP00000498052.2:n.*61G>T
ENST00000343257.7:c.*61G>T MANE Select ENSP00000339867.2:n.*61G>T
ENST00000343257.6:c.*61G>T ENSP00000339867.2:n.*61G>T
XM_011515781.1:c.*61G>T XP_011514083.1:n.*61G>T
XM_011515782.1:c.*61G>T XP_011514084.1:n.*61G>T
NM_000083.3:c.*61G>T MANE Select NP_000074.3:n.*61G>T
NR_046453.2:n.2983G>T
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