Canonical Allele Identifier: CA509425313
Gene: MAVS HGNC NCBI

Linked Data

dbSNP Id: rs1407245874
gnomAD v2: 20-3838404-G-A
gnomAD v3: 20-3857757-G-A
gnomAD v4: 20-3857757-G-A
COSMIC: COSM1565785
MyVariant Identifiers: chr20:g.3838404G>A (hg19) chr20:g.3857757G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857757G>A , CM000682.2:g.3857757G>A GRCh38
NC_000020.10:g.3838404G>A , CM000682.1:g.3838404G>A GRCh37
NC_000020.9:g.3786404G>A NCBI36
NG_030028.1:g.15959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.240G>A MANE Select ENSP00000401980.2:p.Glu80=
ENST00000416600.6:c.-132+3016G>A ENSP00000413749.2:n.-132+3016G>A
ENST00000428216.3:c.240G>A ENSP00000401980.2:p.Glu80=
NM_001206491.1:c.-132+3016G>A NP_001193420.1:n.-132+3016G>A
NM_020746.4:c.240G>A NP_065797.2:p.Glu80=
NR_037921.1:n.412G>A
NM_020746.5:c.240G>A MANE Select NP_065797.2:p.Glu80=
NR_037921.2:n.377G>A
NM_001206491.2:c.-132+3016G>A NP_001193420.1:n.-132+3016G>A
NM_001385663.1:c.-308G>A NP_001372592.1:n.-308G>A
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