Canonical Allele Identifier: CA5716417
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 228459
ClinVar RCV Id: RCV000223628 RCV001297096 RCV001580096 RCV004020608
dbSNP Id: rs759573189
ExAC: 10:121432085 C / T
gnomAD v2: 10-121432085-C-T
gnomAD v3: 10-119672573-C-T
gnomAD v4: 10-119672573-C-T
MyVariant Identifiers: chr10:g.121432085C>T (hg19) chr10:g.119672573C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672573C>T , CM000672.2:g.119672573C>T GRCh38
NC_000010.10:g.121432085C>T , CM000672.1:g.121432085C>T GRCh37
NC_000010.9:g.121422075C>T NCBI36
NG_016125.1:g.26204C>T , LRG_742:g.26204C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.826C>T MANE Select ENSP00000358081.4:p.Arg276Trp
ENST00000369085.7:c.826C>T ENSP00000358081.3:p.Arg276Trp
ENST00000450186.1:c.652C>T ENSP00000410036.1:p.Arg218Trp
NM_004281.3:c.826C>T , LRG_742t1:c.826C>T NP_004272.2:p.Arg276Trp
XM_005270287.1:c.826C>T XP_005270344.1:p.Arg276Trp
XM_005270287.2:c.826C>T XP_005270344.1:p.Arg276Trp
NM_004281.4:c.826C>T MANE Select NP_004272.2:p.Arg276Trp
Search 100 bp 5'
Search 100 bp 3'