Canonical Allele Identifier: CA578626920
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1342393431
gnomAD v2: 7-143049135-C-A
gnomAD v4: 7-143352042-C-A
MyVariant Identifiers: chr7:g.143049135C>A (hg19) chr7:g.143352042C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352042C>A , CM000669.2:g.143352042C>A GRCh38
NC_000007.13:g.143049135C>A , CM000669.1:g.143049135C>A GRCh37
NC_000007.12:g.142759257C>A NCBI36
NG_009815.1:g.40917C>A
NG_009815.2:g.40917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*77C>A ENSP00000498052.2:n.*77C>A
ENST00000343257.7:c.*77C>A MANE Select ENSP00000339867.2:n.*77C>A
ENST00000343257.6:c.*77C>A ENSP00000339867.2:n.*77C>A
XM_011515781.1:c.*77C>A XP_011514083.1:n.*77C>A
XM_011515782.1:c.*77C>A XP_011514084.1:n.*77C>A
NM_000083.3:c.*77C>A MANE Select NP_000074.3:n.*77C>A
NR_046453.2:n.2999C>A
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