Canonical Allele Identifier: CA9750014

Gene: MAVS

Linked Data

• dbSNP Id: rs17857295
• ExAC: 20:3838441 C / A
• gnomAD v2: 20-3838441-C-A
• gnomAD v3: 20-3857794-C-A
• gnomAD v4: 20-3857794-C-A
• MyVariant Identifiers: chr20:g.3838441C>A (hg19) ; chr20:g.3857794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857794C>A , CM000682.2:g.3857794C>A	GRCh38
NC_000020.10:g.3838441C>A , CM000682.1:g.3838441C>A	GRCh37
NC_000020.9:g.3786441C>A	NCBI36
NG_030028.1:g.15996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.277C>A MANE Select	ENSP00000401980.2:p.Gln93Lys
ENST00000416600.6:c.-132+3053C>A	ENSP00000413749.2:n.-132+3053C>A
ENST00000428216.3:c.277C>A	ENSP00000401980.2:p.Gln93Lys
NM_001206491.1:c.-132+3053C>A	NP_001193420.1:n.-132+3053C>A
NM_020746.4:c.277C>A	NP_065797.2:p.Gln93Lys
NR_037921.1:n.449C>A
NM_020746.5:c.277C>A MANE Select	NP_065797.2:p.Gln93Lys
NR_037921.2:n.414C>A
NM_001206491.2:c.-132+3053C>A	NP_001193420.1:n.-132+3053C>A
NM_001385663.1:c.-271C>A	NP_001372592.1:n.-271C>A