Canonical Allele Identifier: CA408118505
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857663-C-A
MyVariant Identifiers: chr20:g.3838310C>A (hg19) chr20:g.3857663C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857663C>A , CM000682.2:g.3857663C>A GRCh38
NC_000020.10:g.3838310C>A , CM000682.1:g.3838310C>A GRCh37
NC_000020.9:g.3786310C>A NCBI36
NG_030028.1:g.15865C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.146C>A MANE Select ENSP00000401980.2:p.Ser49Ter
ENST00000416600.6:c.-132+2922C>A ENSP00000413749.2:n.-132+2922C>A
ENST00000428216.3:c.146C>A ENSP00000401980.2:p.Ser49Ter
NM_001206491.1:c.-132+2922C>A NP_001193420.1:n.-132+2922C>A
NM_020746.4:c.146C>A NP_065797.2:p.Ser49Ter
NR_037921.1:n.318C>A
NM_020746.5:c.146C>A MANE Select NP_065797.2:p.Ser49Ter
NR_037921.2:n.283C>A
NM_001206491.2:c.-132+2922C>A NP_001193420.1:n.-132+2922C>A
NM_001385663.1:c.-402C>A NP_001372592.1:n.-402C>A
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