Canonical Allele Identifier: CA408119105

Gene: MAVS

Linked Data

• dbSNP Id: rs1282625758
• gnomAD v2: 20-3838409-T-C
• gnomAD v4: 20-3857762-T-C
• MyVariant Identifiers: chr20:g.3838409T>C (hg19) ; chr20:g.3857762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857762T>C , CM000682.2:g.3857762T>C	GRCh38
NC_000020.10:g.3838409T>C , CM000682.1:g.3838409T>C	GRCh37
NC_000020.9:g.3786409T>C	NCBI36
NG_030028.1:g.15964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.245T>C MANE Select	ENSP00000401980.2:p.Val82Ala
ENST00000416600.6:c.-132+3021T>C	ENSP00000413749.2:n.-132+3021T>C
ENST00000428216.3:c.245T>C	ENSP00000401980.2:p.Val82Ala
NM_001206491.1:c.-132+3021T>C	NP_001193420.1:n.-132+3021T>C
NM_020746.4:c.245T>C	NP_065797.2:p.Val82Ala
NR_037921.1:n.417T>C
NM_020746.5:c.245T>C MANE Select	NP_065797.2:p.Val82Ala
NR_037921.2:n.382T>C
NM_001206491.2:c.-132+3021T>C	NP_001193420.1:n.-132+3021T>C
NM_001385663.1:c.-303T>C	NP_001372592.1:n.-303T>C