Canonical Allele Identifier: CA5716430

Gene: BAG3

Linked Data

• ClinVar Variation Id: 386339
• ClinVar RCV Id: RCV000429285 ; RCV000853121 ; RCV001048342 ; RCV002446705
• dbSNP Id: rs151335530
• ExAC: 10:121432140 G / A
• gnomAD v2: 10-121432140-G-A
• gnomAD v3: 10-119672628-G-A
• gnomAD v4: 10-119672628-G-A
• COSMIC: COSM915384
• MyVariant Identifiers: chr10:g.121432140G>A (hg19) ; chr10:g.119672628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119672628G>A , CM000672.2:g.119672628G>A	GRCh38
NC_000010.10:g.121432140G>A , CM000672.1:g.121432140G>A	GRCh37
NC_000010.9:g.121422130G>A	NCBI36
NG_016125.1:g.26259G>A , LRG_742:g.26259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.881G>A MANE Select	ENSP00000358081.4:p.Arg294His
ENST00000369085.7:c.881G>A	ENSP00000358081.3:p.Arg294His
ENST00000450186.1:c.707G>A	ENSP00000410036.1:p.Arg236His
NM_004281.3:c.881G>A , LRG_742t1:c.881G>A	NP_004272.2:p.Arg294His
XM_005270287.1:c.881G>A	XP_005270344.1:p.Arg294His
XM_005270287.2:c.881G>A	XP_005270344.1:p.Arg294His
NM_004281.4:c.881G>A MANE Select	NP_004272.2:p.Arg294His