Canonical Allele Identifier: CA408119153

Gene: MAVS

Linked Data

• COSMIC: COSM124343
• MyVariant Identifiers: chr20:g.3838433C>G (hg19) ; chr20:g.3857786C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857786C>G , CM000682.2:g.3857786C>G	GRCh38
NC_000020.10:g.3838433C>G , CM000682.1:g.3838433C>G	GRCh37
NC_000020.9:g.3786433C>G	NCBI36
NG_030028.1:g.15988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.269C>G MANE Select	ENSP00000401980.2:p.Ser90Cys
ENST00000416600.6:c.-132+3045C>G	ENSP00000413749.2:n.-132+3045C>G
ENST00000428216.3:c.269C>G	ENSP00000401980.2:p.Ser90Cys
NM_001206491.1:c.-132+3045C>G	NP_001193420.1:n.-132+3045C>G
NM_020746.4:c.269C>G	NP_065797.2:p.Ser90Cys
NR_037921.1:n.441C>G
NM_020746.5:c.269C>G MANE Select	NP_065797.2:p.Ser90Cys
NR_037921.2:n.406C>G
NM_001206491.2:c.-132+3045C>G	NP_001193420.1:n.-132+3045C>G
NM_001385663.1:c.-279C>G	NP_001372592.1:n.-279C>G