Canonical Allele Identifier: CA5716465

Gene: BAG3

Linked Data

• ClinVar Variation Id: 658377
• ClinVar RCV Id: RCV000815195 ; RCV001570989 ; RCV002381826
• dbSNP Id: rs768613403
• ExAC: 10:121436093 C / T
• gnomAD v2: 10-121436093-C-T
• gnomAD v3: 10-119676581-C-T
• gnomAD v4: 10-119676581-C-T
• MyVariant Identifiers: chr10:g.121436093C>T (hg19) ; chr10:g.119676581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119676581C>T , CM000672.2:g.119676581C>T	GRCh38
NC_000010.10:g.121436093C>T , CM000672.1:g.121436093C>T	GRCh37
NC_000010.9:g.121426083C>T	NCBI36
NG_016125.1:g.30212C>T , LRG_742:g.30212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.1027C>T MANE Select	ENSP00000358081.4:p.Arg343Cys
ENST00000369085.7:c.1027C>T	ENSP00000358081.3:p.Arg343Cys
ENST00000450186.1:c.850C>T	ENSP00000410036.1:p.Arg284Cys
NM_004281.3:c.1027C>T , LRG_742t1:c.1027C>T	NP_004272.2:p.Arg343Cys
XM_005270287.1:c.1024C>T	XP_005270344.1:p.Arg342Cys
XM_005270287.2:c.1024C>T	XP_005270344.1:p.Arg342Cys
NM_004281.4:c.1027C>T MANE Select	NP_004272.2:p.Arg343Cys