Canonical Allele Identifier: CA2346769767
Gene: MAVS HGNC NCBI

Linked Data

dbSNP Id: rs1352623907
gnomAD v4: 20-3857845-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857845C>G , CM000682.2:g.3857845C>G GRCh38
NC_000020.10:g.3838492C>G , CM000682.1:g.3838492C>G GRCh37
NC_000020.9:g.3786492C>G NCBI36
NG_030028.1:g.16047C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.292+36C>G MANE Select ENSP00000401980.2:n.292+36C>G
ENST00000416600.6:c.-132+3104C>G ENSP00000413749.2:n.-132+3104C>G
ENST00000428216.3:c.292+36C>G ENSP00000401980.2:n.292+36C>G
NM_001206491.1:c.-132+3104C>G NP_001193420.1:n.-132+3104C>G
NM_020746.4:c.292+36C>G NP_065797.2:n.292+36C>G
NR_037921.1:n.464+36C>G
NM_020746.5:c.292+36C>G MANE Select NP_065797.2:n.292+36C>G
NR_037921.2:n.429+36C>G
NM_001206491.2:c.-132+3104C>G NP_001193420.1:n.-132+3104C>G
NM_001385663.1:c.-256+36C>G NP_001372592.1:n.-256+36C>G