Canonical Allele Identifier: CA5716429

Gene: BAG3

Linked Data

• ClinVar Variation Id: 1009365
• ClinVar RCV Id: RCV001306841 ; RCV002375381
• dbSNP Id: rs144585878
• ExAC: 10:121432139 C / T
• gnomAD v2: 10-121432139-C-T
• gnomAD v3: 10-119672627-C-T
• gnomAD v4: 10-119672627-C-T
• COSMIC: COSM271738
• MyVariant Identifiers: chr10:g.121432139C>T (hg19) ; chr10:g.119672627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119672627C>T , CM000672.2:g.119672627C>T	GRCh38
NC_000010.10:g.121432139C>T , CM000672.1:g.121432139C>T	GRCh37
NC_000010.9:g.121422129C>T	NCBI36
NG_016125.1:g.26258C>T , LRG_742:g.26258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.880C>T MANE Select	ENSP00000358081.4:p.Arg294Cys
ENST00000369085.7:c.880C>T	ENSP00000358081.3:p.Arg294Cys
ENST00000450186.1:c.706C>T	ENSP00000410036.1:p.Arg236Cys
NM_004281.3:c.880C>T , LRG_742t1:c.880C>T	NP_004272.2:p.Arg294Cys
XM_005270287.1:c.880C>T	XP_005270344.1:p.Arg294Cys
XM_005270287.2:c.880C>T	XP_005270344.1:p.Arg294Cys
NM_004281.4:c.880C>T MANE Select	NP_004272.2:p.Arg294Cys