Canonical Allele Identifier: CA2651759221
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857579-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857579G>A , CM000682.2:g.3857579G>A GRCh38
NC_000020.10:g.3838226G>A , CM000682.1:g.3838226G>A GRCh37
NC_000020.9:g.3786226G>A NCBI36
NG_030028.1:g.15781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.118-56G>A MANE Select ENSP00000401980.2:n.118-56G>A
ENST00000416600.6:c.-132+2838G>A ENSP00000413749.2:n.-132+2838G>A
ENST00000428216.3:c.118-56G>A ENSP00000401980.2:n.118-56G>A
NM_001206491.1:c.-132+2838G>A NP_001193420.1:n.-132+2838G>A
NM_020746.4:c.118-56G>A NP_065797.2:n.118-56G>A
NR_037921.1:n.290-56G>A
NM_020746.5:c.118-56G>A MANE Select NP_065797.2:n.118-56G>A
NR_037921.2:n.255-56G>A
NM_001206491.2:c.-132+2838G>A NP_001193420.1:n.-132+2838G>A
NM_001385663.1:c.-430-56G>A NP_001372592.1:n.-430-56G>A