Canonical Allele Identifier: CA9433781
Gene: CLC HGNC NCBI

Linked Data

dbSNP Id: rs761258843
ExAC: 19:40225656 G / A
gnomAD v2: 19-40225656-G-A
gnomAD v3: 19-39735016-G-A
gnomAD v4: 19-39735016-G-A
COSMIC: COSM5777849
MyVariant Identifiers: chr19:g.40225656G>A (hg19) chr19:g.39735016G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39735016G>A , CM000681.2:g.39735016G>A GRCh38
NC_000019.9:g.40225656G>A , CM000681.1:g.40225656G>A GRCh37
NC_000019.8:g.44917496G>A NCBI36
NG_046978.1:g.8014C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221804.5:c.73C>T MANE Select ENSP00000221804.3:p.Arg25Ter
ENST00000221804.4:c.73C>T ENSP00000221804.3:p.Arg25Ter
NM_001828.5:c.73C>T NP_001819.2:p.Arg25Ter
NM_001828.6:c.73C>T MANE Select NP_001819.2:p.Arg25Ter
Search 100 bp 5'
Search 100 bp 3'