Canonical Allele Identifier: CA408119139

Gene: MAVS

Linked Data

• dbSNP Id: rs1174928181
• MyVariant Identifiers: chr20:g.3838426G>C (hg19) ; chr20:g.3857779G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857779G>C , CM000682.2:g.3857779G>C	GRCh38
NC_000020.10:g.3838426G>C , CM000682.1:g.3838426G>C	GRCh37
NC_000020.9:g.3786426G>C	NCBI36
NG_030028.1:g.15981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.262G>C MANE Select	ENSP00000401980.2:p.Val88Leu
ENST00000416600.6:c.-132+3038G>C	ENSP00000413749.2:n.-132+3038G>C
ENST00000428216.3:c.262G>C	ENSP00000401980.2:p.Val88Leu
NM_001206491.1:c.-132+3038G>C	NP_001193420.1:n.-132+3038G>C
NM_020746.4:c.262G>C	NP_065797.2:p.Val88Leu
NR_037921.1:n.434G>C
NM_020746.5:c.262G>C MANE Select	NP_065797.2:p.Val88Leu
NR_037921.2:n.399G>C
NM_001206491.2:c.-132+3038G>C	NP_001193420.1:n.-132+3038G>C
NM_001385663.1:c.-286G>C	NP_001372592.1:n.-286G>C