Canonical Allele Identifier: CA2346769784
Gene: MAVS HGNC NCBI

Linked Data

dbSNP Id: rs2089826273
gnomAD v4: 20-3857876-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857876T>G , CM000682.2:g.3857876T>G GRCh38
NC_000020.10:g.3838523T>G , CM000682.1:g.3838523T>G GRCh37
NC_000020.9:g.3786523T>G NCBI36
NG_030028.1:g.16078T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.292+67T>G MANE Select ENSP00000401980.2:n.292+67T>G
ENST00000416600.6:c.-132+3135T>G ENSP00000413749.2:n.-132+3135T>G
ENST00000428216.3:c.292+67T>G ENSP00000401980.2:n.292+67T>G
NM_001206491.1:c.-132+3135T>G NP_001193420.1:n.-132+3135T>G
NM_020746.4:c.292+67T>G NP_065797.2:n.292+67T>G
NR_037921.1:n.464+67T>G
NM_020746.5:c.292+67T>G MANE Select NP_065797.2:n.292+67T>G
NR_037921.2:n.429+67T>G
NM_001206491.2:c.-132+3135T>G NP_001193420.1:n.-132+3135T>G
NM_001385663.1:c.-256+67T>G NP_001372592.1:n.-256+67T>G