Canonical Allele Identifier: CA2346769769
Gene: MAVS HGNC NCBI

Linked Data

dbSNP Id: rs2089825964
gnomAD v4: 20-3857851-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857851C>A , CM000682.2:g.3857851C>A GRCh38
NC_000020.10:g.3838498C>A , CM000682.1:g.3838498C>A GRCh37
NC_000020.9:g.3786498C>A NCBI36
NG_030028.1:g.16053C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.292+42C>A MANE Select ENSP00000401980.2:n.292+42C>A
ENST00000416600.6:c.-132+3110C>A ENSP00000413749.2:n.-132+3110C>A
ENST00000428216.3:c.292+42C>A ENSP00000401980.2:n.292+42C>A
NM_001206491.1:c.-132+3110C>A NP_001193420.1:n.-132+3110C>A
NM_020746.4:c.292+42C>A NP_065797.2:n.292+42C>A
NR_037921.1:n.464+42C>A
NM_020746.5:c.292+42C>A MANE Select NP_065797.2:n.292+42C>A
NR_037921.2:n.429+42C>A
NM_001206491.2:c.-132+3110C>A NP_001193420.1:n.-132+3110C>A
NM_001385663.1:c.-256+42C>A NP_001372592.1:n.-256+42C>A
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