Canonical Allele Identifier: CA2651759206
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857565-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857565G>C , CM000682.2:g.3857565G>C GRCh38
NC_000020.10:g.3838212G>C , CM000682.1:g.3838212G>C GRCh37
NC_000020.9:g.3786212G>C NCBI36
NG_030028.1:g.15767G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.118-70G>C MANE Select ENSP00000401980.2:n.118-70G>C
ENST00000416600.6:c.-132+2824G>C ENSP00000413749.2:n.-132+2824G>C
ENST00000428216.3:c.118-70G>C ENSP00000401980.2:n.118-70G>C
NM_001206491.1:c.-132+2824G>C NP_001193420.1:n.-132+2824G>C
NM_020746.4:c.118-70G>C NP_065797.2:n.118-70G>C
NR_037921.1:n.290-70G>C
NM_020746.5:c.118-70G>C MANE Select NP_065797.2:n.118-70G>C
NR_037921.2:n.255-70G>C
NM_001206491.2:c.-132+2824G>C NP_001193420.1:n.-132+2824G>C
NM_001385663.1:c.-430-70G>C NP_001372592.1:n.-430-70G>C