Canonical Allele Identifier: CA311065376

Gene: MAVS

Linked Data

• dbSNP Id: rs11905552
• MyVariant Identifiers: chr20:g.3838400G>C (hg19) ; chr20:g.3857753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857753G>C , CM000682.2:g.3857753G>C	GRCh38
NC_000020.10:g.3838400G>C , CM000682.1:g.3838400G>C	GRCh37
NC_000020.9:g.3786400G>C	NCBI36
NG_030028.1:g.15955G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000428216.4:c.236G>C MANE Select	ENSP00000401980.2:p.Cys79Ser
ENST00000416600.6:c.-132+3012G>C	ENSP00000413749.2:n.-132+3012G>C
ENST00000428216.3:c.236G>C	ENSP00000401980.2:p.Cys79Ser
NM_001206491.1:c.-132+3012G>C	NP_001193420.1:n.-132+3012G>C
NM_020746.4:c.236G>C	NP_065797.2:p.Cys79Ser
NR_037921.1:n.408G>C
NM_020746.5:c.236G>C MANE Select	NP_065797.2:p.Cys79Ser
NR_037921.2:n.373G>C
NM_001206491.2:c.-132+3012G>C	NP_001193420.1:n.-132+3012G>C
NM_001385663.1:c.-312G>C	NP_001372592.1:n.-312G>C