Canonical Allele Identifier: CA2577329366

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857857-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857857C>A , CM000682.2:g.3857857C>A	GRCh38
NC_000020.10:g.3838504C>A , CM000682.1:g.3838504C>A	GRCh37
NC_000020.9:g.3786504C>A	NCBI36
NG_030028.1:g.16059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.292+48C>A MANE Select	ENSP00000401980.2:n.292+48C>A
ENST00000416600.6:c.-132+3116C>A	ENSP00000413749.2:n.-132+3116C>A
ENST00000428216.3:c.292+48C>A	ENSP00000401980.2:n.292+48C>A
NM_001206491.1:c.-132+3116C>A	NP_001193420.1:n.-132+3116C>A
NM_020746.4:c.292+48C>A	NP_065797.2:n.292+48C>A
NR_037921.1:n.464+48C>A
NM_020746.5:c.292+48C>A MANE Select	NP_065797.2:n.292+48C>A
NR_037921.2:n.429+48C>A
NM_001206491.2:c.-132+3116C>A	NP_001193420.1:n.-132+3116C>A
NM_001385663.1:c.-256+48C>A	NP_001372592.1:n.-256+48C>A