Canonical Allele Identifier: CA4537838
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs576294869
ExAC: 7:143049133 G / C
gnomAD v2: 7-143049133-G-C
gnomAD v3: 7-143352040-G-C
gnomAD v4: 7-143352040-G-C
MyVariant Identifiers: chr7:g.143049133G>C (hg19) chr7:g.143352040G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352040G>C , CM000669.2:g.143352040G>C GRCh38
NC_000007.13:g.143049133G>C , CM000669.1:g.143049133G>C GRCh37
NC_000007.12:g.142759255G>C NCBI36
NG_009815.1:g.40915G>C
NG_009815.2:g.40915G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*75G>C ENSP00000498052.2:n.*75G>C
ENST00000343257.7:c.*75G>C MANE Select ENSP00000339867.2:n.*75G>C
ENST00000343257.6:c.*75G>C ENSP00000339867.2:n.*75G>C
XM_011515781.1:c.*75G>C XP_011514083.1:n.*75G>C
XM_011515782.1:c.*75G>C XP_011514084.1:n.*75G>C
NM_000083.3:c.*75G>C MANE Select NP_000074.3:n.*75G>C
NR_046453.2:n.2997G>C
Search 100 bp 5'
Search 100 bp 3'