Canonical Allele Identifier: CA378296120
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2946905
ClinVar RCV Id: RCV003809143

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672642G>T , CM000672.2:g.119672642G>T GRCh38
NC_000010.10:g.121432154G>T , CM000672.1:g.121432154G>T GRCh37
NC_000010.9:g.121422144G>T NCBI36
NG_016125.1:g.26273G>T , LRG_742:g.26273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.895G>T MANE Select ENSP00000358081.4:p.Val299Phe
ENST00000369085.7:c.895G>T ENSP00000358081.3:p.Val299Phe
ENST00000450186.1:c.721G>T ENSP00000410036.1:p.Val241Phe
NM_004281.3:c.895G>T , LRG_742t1:c.895G>T NP_004272.2:p.Val299Phe
XM_005270287.1:c.895G>T XP_005270344.1:p.Val299Phe
XM_005270287.2:c.895G>T XP_005270344.1:p.Val299Phe
NM_004281.4:c.895G>T MANE Select NP_004272.2:p.Val299Phe