Canonical Allele Identifier: CA346200
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180283
ClinVar RCV Id: RCV000157122
dbSNP Id: rs730880055

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119676851C>T , CM000672.2:g.119676851C>T GRCh38
NC_000010.10:g.121436363C>T , CM000672.1:g.121436363C>T GRCh37
NC_000010.9:g.121426353C>T NCBI36
NG_016125.1:g.30482C>T , LRG_742:g.30482C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.1297C>T MANE Select ENSP00000358081.4:p.Gln433Ter
ENST00000369085.7:c.1297C>T ENSP00000358081.3:p.Gln433Ter
NM_004281.3:c.1297C>T , LRG_742t1:c.1297C>T NP_004272.2:p.Gln433Ter
XM_005270287.1:c.1294C>T XP_005270344.1:p.Gln432Ter
XM_005270287.2:c.1294C>T XP_005270344.1:p.Gln432Ter
NM_004281.4:c.1297C>T MANE Select NP_004272.2:p.Gln433Ter