Canonical Allele Identifier: CA2651759203
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857562-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857562G>T , CM000682.2:g.3857562G>T GRCh38
NC_000020.10:g.3838209G>T , CM000682.1:g.3838209G>T GRCh37
NC_000020.9:g.3786209G>T NCBI36
NG_030028.1:g.15764G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.118-73G>T MANE Select ENSP00000401980.2:n.118-73G>T
ENST00000416600.6:c.-132+2821G>T ENSP00000413749.2:n.-132+2821G>T
ENST00000428216.3:c.118-73G>T ENSP00000401980.2:n.118-73G>T
NM_001206491.1:c.-132+2821G>T NP_001193420.1:n.-132+2821G>T
NM_020746.4:c.118-73G>T NP_065797.2:n.118-73G>T
NR_037921.1:n.290-73G>T
NM_020746.5:c.118-73G>T MANE Select NP_065797.2:n.118-73G>T
NR_037921.2:n.255-73G>T
NM_001206491.2:c.-132+2821G>T NP_001193420.1:n.-132+2821G>T
NM_001385663.1:c.-430-73G>T NP_001372592.1:n.-430-73G>T