Canonical Allele Identifier: CA2685383552
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143352019-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352019A>C , CM000669.2:g.143352019A>C GRCh38
NC_000007.13:g.143049112A>C , CM000669.1:g.143049112A>C GRCh37
NC_000007.12:g.142759234A>C NCBI36
NG_009815.1:g.40894A>C
NG_009815.2:g.40894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*54A>C ENSP00000498052.2:n.*54A>C
ENST00000343257.7:c.*54A>C MANE Select ENSP00000339867.2:n.*54A>C
ENST00000343257.6:c.*54A>C ENSP00000339867.2:n.*54A>C
XM_011515781.1:c.*54A>C XP_011514083.1:n.*54A>C
XM_011515782.1:c.*54A>C XP_011514084.1:n.*54A>C
NM_000083.3:c.*54A>C MANE Select NP_000074.3:n.*54A>C
NR_046453.2:n.2976A>C
Search 100 bp 5'
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