Canonical Allele Identifier: CA181165

Gene: BAG3

Linked Data

• ClinVar Variation Id: 178007
• ClinVar RCV Id: RCV000154684 ; RCV000172519 ; RCV000622150 ; RCV000988454 ; RCV000853125 ; RCV001085873
• dbSNP Id: rs145393807
• ExAC: 10:121429462 A / T
• gnomAD v2: 10-121429462-A-T
• gnomAD v3: 10-119669950-A-T
• gnomAD v4: 10-119669950-A-T
• MyVariant Identifiers: chr10:g.121429462A>T (hg19) ; chr10:g.119669950A>T (hg38)
• PubMed: PMID:21353195 ; PMID:21459883 ; PMID:23861362 ; PMID:27042682 ; PMID:27896284 ; PMID:28798025

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119669950A>T , CM000672.2:g.119669950A>T	GRCh38
NC_000010.10:g.121429462A>T , CM000672.1:g.121429462A>T	GRCh37
NC_000010.9:g.121419452A>T	NCBI36
NG_016125.1:g.23581A>T , LRG_742:g.23581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.280A>T MANE Select	ENSP00000358081.4:p.Ile94Phe
ENST00000369085.7:c.280A>T	ENSP00000358081.3:p.Ile94Phe
ENST00000450186.1:c.106A>T	ENSP00000410036.1:p.Ile36Phe
NM_004281.3:c.280A>T , LRG_742t1:c.280A>T	NP_004272.2:p.Ile94Phe
XM_005270287.1:c.280A>T	XP_005270344.1:p.Ile94Phe
XM_005270287.2:c.280A>T	XP_005270344.1:p.Ile94Phe
NM_004281.4:c.280A>T MANE Select	NP_004272.2:p.Ile94Phe