Canonical Allele Identifier: CA408118337

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838289T>C (hg19) ; chr20:g.3857642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857642T>C , CM000682.2:g.3857642T>C	GRCh38
NC_000020.10:g.3838289T>C , CM000682.1:g.3838289T>C	GRCh37
NC_000020.9:g.3786289T>C	NCBI36
NG_030028.1:g.15844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.125T>C MANE Select	ENSP00000401980.2:p.Leu42Pro
ENST00000416600.6:c.-132+2901T>C	ENSP00000413749.2:n.-132+2901T>C
ENST00000428216.3:c.125T>C	ENSP00000401980.2:p.Leu42Pro
NM_001206491.1:c.-132+2901T>C	NP_001193420.1:n.-132+2901T>C
NM_020746.4:c.125T>C	NP_065797.2:p.Leu42Pro
NR_037921.1:n.297T>C
NM_020746.5:c.125T>C MANE Select	NP_065797.2:p.Leu42Pro
NR_037921.2:n.262T>C
NM_001206491.2:c.-132+2901T>C	NP_001193420.1:n.-132+2901T>C
NM_001385663.1:c.-423T>C	NP_001372592.1:n.-423T>C