Canonical Allele Identifier: CA408118484

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838306C>T (hg19) ; chr20:g.3857659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857659C>T , CM000682.2:g.3857659C>T	GRCh38
NC_000020.10:g.3838306C>T , CM000682.1:g.3838306C>T	GRCh37
NC_000020.9:g.3786306C>T	NCBI36
NG_030028.1:g.15861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.142C>T MANE Select	ENSP00000401980.2:p.Leu48Phe
ENST00000416600.6:c.-132+2918C>T	ENSP00000413749.2:n.-132+2918C>T
ENST00000428216.3:c.142C>T	ENSP00000401980.2:p.Leu48Phe
NM_001206491.1:c.-132+2918C>T	NP_001193420.1:n.-132+2918C>T
NM_020746.4:c.142C>T	NP_065797.2:p.Leu48Phe
NR_037921.1:n.314C>T
NM_020746.5:c.142C>T MANE Select	NP_065797.2:p.Leu48Phe
NR_037921.2:n.279C>T
NM_001206491.2:c.-132+2918C>T	NP_001193420.1:n.-132+2918C>T
NM_001385663.1:c.-406C>T	NP_001372592.1:n.-406C>T