Canonical Allele Identifier: CA2651759280

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857893-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857893C>T , CM000682.2:g.3857893C>T	GRCh38
NC_000020.10:g.3838540C>T , CM000682.1:g.3838540C>T	GRCh37
NC_000020.9:g.3786540C>T	NCBI36
NG_030028.1:g.16095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.292+84C>T MANE Select	ENSP00000401980.2:n.292+84C>T
ENST00000416600.6:c.-132+3152C>T	ENSP00000413749.2:n.-132+3152C>T
ENST00000428216.3:c.292+84C>T	ENSP00000401980.2:n.292+84C>T
NM_001206491.1:c.-132+3152C>T	NP_001193420.1:n.-132+3152C>T
NM_020746.4:c.292+84C>T	NP_065797.2:n.292+84C>T
NR_037921.1:n.464+84C>T
NM_020746.5:c.292+84C>T MANE Select	NP_065797.2:n.292+84C>T
NR_037921.2:n.429+84C>T
NM_001206491.2:c.-132+3152C>T	NP_001193420.1:n.-132+3152C>T
NM_001385663.1:c.-256+84C>T	NP_001372592.1:n.-256+84C>T