Canonical Allele Identifier: CA408119102
Gene: MAVS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3838408G>C (hg19) chr20:g.3857761G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857761G>C , CM000682.2:g.3857761G>C GRCh38
NC_000020.10:g.3838408G>C , CM000682.1:g.3838408G>C GRCh37
NC_000020.9:g.3786408G>C NCBI36
NG_030028.1:g.15963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.244G>C MANE Select ENSP00000401980.2:p.Val82Leu
ENST00000416600.6:c.-132+3020G>C ENSP00000413749.2:n.-132+3020G>C
ENST00000428216.3:c.244G>C ENSP00000401980.2:p.Val82Leu
NM_001206491.1:c.-132+3020G>C NP_001193420.1:n.-132+3020G>C
NM_020746.4:c.244G>C NP_065797.2:p.Val82Leu
NR_037921.1:n.416G>C
NM_020746.5:c.244G>C MANE Select NP_065797.2:p.Val82Leu
NR_037921.2:n.381G>C
NM_001206491.2:c.-132+3020G>C NP_001193420.1:n.-132+3020G>C
NM_001385663.1:c.-304G>C NP_001372592.1:n.-304G>C
Search 100 bp 5'
Search 100 bp 3'