Canonical Allele Identifier: CA408119137
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857778-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857778A>C , CM000682.2:g.3857778A>C GRCh38
NC_000020.10:g.3838425A>C , CM000682.1:g.3838425A>C GRCh37
NC_000020.9:g.3786425A>C NCBI36
NG_030028.1:g.15980A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.261A>C MANE Select ENSP00000401980.2:p.Glu87Asp
ENST00000416600.6:c.-132+3037A>C ENSP00000413749.2:n.-132+3037A>C
ENST00000428216.3:c.261A>C ENSP00000401980.2:p.Glu87Asp
NM_001206491.1:c.-132+3037A>C NP_001193420.1:n.-132+3037A>C
NM_020746.4:c.261A>C NP_065797.2:p.Glu87Asp
NR_037921.1:n.433A>C
NM_020746.5:c.261A>C MANE Select NP_065797.2:p.Glu87Asp
NR_037921.2:n.398A>C
NM_001206491.2:c.-132+3037A>C NP_001193420.1:n.-132+3037A>C
NM_001385663.1:c.-287A>C NP_001372592.1:n.-287A>C