Canonical Allele Identifier: CA3264675
Gene: HSPB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 471414
ClinVar RCV Id: RCV000711983 RCV001084856
dbSNP Id: rs150931007
ExAC: 5:53751966 G / A
gnomAD v2: 5-53751966-G-A
gnomAD v3: 5-54456136-G-A
gnomAD v4: 5-54456136-G-A
COSMIC: COSM3343815
MyVariant Identifiers: chr5:g.53751966G>A (hg19) chr5:g.54456136G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.54456136G>A , CM000667.2:g.54456136G>A GRCh38
NC_000005.9:g.53751966G>A , CM000667.1:g.53751966G>A GRCh37
NC_000005.8:g.53787723G>A NCBI36
NG_027758.1:g.5536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302005.3:c.347G>A MANE Select ENSP00000303394.1:p.Arg116Gln
ENST00000302005.2:c.347G>A ENSP00000303394.1:p.Arg116Gln
NM_006308.2:c.347G>A NP_006299.1:p.Arg116Gln
NM_006308.3:c.347G>A MANE Select NP_006299.1:p.Arg116Gln
Search 100 bp 5'
Search 100 bp 3'