Canonical Allele Identifier: CA408118494

Gene: MAVS

Linked Data

• dbSNP Id: rs1426876515
• gnomAD v2: 20-3838307-T-G
• gnomAD v4: 20-3857660-T-G
• MyVariant Identifiers: chr20:g.3838307T>G (hg19) ; chr20:g.3857660T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.143T>G MANE Select	ENSP00000401980.2:p.Leu48Arg
ENST00000416600.6:c.-132+2919T>G	ENSP00000413749.2:n.-132+2919T>G
ENST00000428216.3:c.143T>G	ENSP00000401980.2:p.Leu48Arg
NM_001206491.1:c.-132+2919T>G	NP_001193420.1:n.-132+2919T>G
NM_020746.4:c.143T>G	NP_065797.2:p.Leu48Arg
NR_037921.1:n.315T>G
NM_020746.5:c.143T>G MANE Select	NP_065797.2:p.Leu48Arg
NR_037921.2:n.280T>G
NM_001206491.2:c.-132+2919T>G	NP_001193420.1:n.-132+2919T>G
NM_001385663.1:c.-405T>G	NP_001372592.1:n.-405T>G