Canonical Allele Identifier: CA5716393
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 264497
ClinVar RCV Id: RCV000244314 RCV000426389 RCV000685071
dbSNP Id: rs149517238
ExAC: 10:121431938 C / G
gnomAD v2: 10-121431938-C-G
gnomAD v3: 10-119672426-C-G
gnomAD v4: 10-119672426-C-G
MyVariant Identifiers: chr10:g.121431938C>G (hg19) chr10:g.119672426C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672426C>G , CM000672.2:g.119672426C>G GRCh38
NC_000010.10:g.121431938C>G , CM000672.1:g.121431938C>G GRCh37
NC_000010.9:g.121421928C>G NCBI36
NG_016125.1:g.26057C>G , LRG_742:g.26057C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369085.8:c.679C>G MANE Select ENSP00000358081.4:p.Gln227Glu
ENST00000369085.7:c.679C>G ENSP00000358081.3:p.Gln227Glu
ENST00000450186.1:c.505C>G ENSP00000410036.1:p.Gln169Glu
NM_004281.3:c.679C>G , LRG_742t1:c.679C>G NP_004272.2:p.Gln227Glu
XM_005270287.1:c.679C>G XP_005270344.1:p.Gln227Glu
XM_005270287.2:c.679C>G XP_005270344.1:p.Gln227Glu
NM_004281.4:c.679C>G MANE Select NP_004272.2:p.Gln227Glu
Search 100 bp 5'
Search 100 bp 3'