Canonical Allele Identifier: CA2651759287
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857903-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857903T>C , CM000682.2:g.3857903T>C GRCh38
NC_000020.10:g.3838550T>C , CM000682.1:g.3838550T>C GRCh37
NC_000020.9:g.3786550T>C NCBI36
NG_030028.1:g.16105T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.292+94T>C MANE Select ENSP00000401980.2:n.292+94T>C
ENST00000416600.6:c.-132+3162T>C ENSP00000413749.2:n.-132+3162T>C
ENST00000428216.3:c.292+94T>C ENSP00000401980.2:n.292+94T>C
NM_001206491.1:c.-132+3162T>C NP_001193420.1:n.-132+3162T>C
NM_020746.4:c.292+94T>C NP_065797.2:n.292+94T>C
NR_037921.1:n.464+94T>C
NM_020746.5:c.292+94T>C MANE Select NP_065797.2:n.292+94T>C
NR_037921.2:n.429+94T>C
NM_001206491.2:c.-132+3162T>C NP_001193420.1:n.-132+3162T>C
NM_001385663.1:c.-256+94T>C NP_001372592.1:n.-256+94T>C