Canonical Allele Identifier: CA408118487
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857660-T-A
MyVariant Identifiers: chr20:g.3838307T>A (hg19) chr20:g.3857660T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857660T>A , CM000682.2:g.3857660T>A GRCh38
NC_000020.10:g.3838307T>A , CM000682.1:g.3838307T>A GRCh37
NC_000020.9:g.3786307T>A NCBI36
NG_030028.1:g.15862T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000428216.4:c.143T>A MANE Select ENSP00000401980.2:p.Leu48His
ENST00000416600.6:c.-132+2919T>A ENSP00000413749.2:n.-132+2919T>A
ENST00000428216.3:c.143T>A ENSP00000401980.2:p.Leu48His
NM_001206491.1:c.-132+2919T>A NP_001193420.1:n.-132+2919T>A
NM_020746.4:c.143T>A NP_065797.2:p.Leu48His
NR_037921.1:n.315T>A
NM_020746.5:c.143T>A MANE Select NP_065797.2:p.Leu48His
NR_037921.2:n.280T>A
NM_001206491.2:c.-132+2919T>A NP_001193420.1:n.-132+2919T>A
NM_001385663.1:c.-405T>A NP_001372592.1:n.-405T>A
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