Canonical Allele Identifier: CA1748898453
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1803428920
gnomAD v4: 7-143352024-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352024G>T , CM000669.2:g.143352024G>T GRCh38
NC_000007.13:g.143049117G>T , CM000669.1:g.143049117G>T GRCh37
NC_000007.12:g.142759239G>T NCBI36
NG_009815.1:g.40899G>T
NG_009815.2:g.40899G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*59G>T ENSP00000498052.2:n.*59G>T
ENST00000343257.7:c.*59G>T MANE Select ENSP00000339867.2:n.*59G>T
ENST00000343257.6:c.*59G>T ENSP00000339867.2:n.*59G>T
XM_011515781.1:c.*59G>T XP_011514083.1:n.*59G>T
XM_011515782.1:c.*59G>T XP_011514084.1:n.*59G>T
NM_000083.3:c.*59G>T MANE Select NP_000074.3:n.*59G>T
NR_046453.2:n.2981G>T
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