Canonical Allele Identifier: CA9750005
Gene: MAVS HGNC NCBI

Linked Data

dbSNP Id: rs147840815
ExAC: 20:3838416 C / G
gnomAD v2: 20-3838416-C-G
gnomAD v3: 20-3857769-C-G
gnomAD v4: 20-3857769-C-G
MyVariant Identifiers: chr20:g.3838416C>G (hg19) chr20:g.3857769C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857769C>G , CM000682.2:g.3857769C>G GRCh38
NC_000020.10:g.3838416C>G , CM000682.1:g.3838416C>G GRCh37
NC_000020.9:g.3786416C>G NCBI36
NG_030028.1:g.15971C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.252C>G MANE Select ENSP00000401980.2:p.Leu84=
ENST00000416600.6:c.-132+3028C>G ENSP00000413749.2:n.-132+3028C>G
ENST00000428216.3:c.252C>G ENSP00000401980.2:p.Leu84=
NM_001206491.1:c.-132+3028C>G NP_001193420.1:n.-132+3028C>G
NM_020746.4:c.252C>G NP_065797.2:p.Leu84=
NR_037921.1:n.424C>G
NM_020746.5:c.252C>G MANE Select NP_065797.2:p.Leu84=
NR_037921.2:n.389C>G
NM_001206491.2:c.-132+3028C>G NP_001193420.1:n.-132+3028C>G
NM_001385663.1:c.-296C>G NP_001372592.1:n.-296C>G
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