Canonical Allele Identifier: CA2651759214
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857572-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857572T>G , CM000682.2:g.3857572T>G GRCh38
NC_000020.10:g.3838219T>G , CM000682.1:g.3838219T>G GRCh37
NC_000020.9:g.3786219T>G NCBI36
NG_030028.1:g.15774T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.118-63T>G MANE Select ENSP00000401980.2:n.118-63T>G
ENST00000416600.6:c.-132+2831T>G ENSP00000413749.2:n.-132+2831T>G
ENST00000428216.3:c.118-63T>G ENSP00000401980.2:n.118-63T>G
NM_001206491.1:c.-132+2831T>G NP_001193420.1:n.-132+2831T>G
NM_020746.4:c.118-63T>G NP_065797.2:n.118-63T>G
NR_037921.1:n.290-63T>G
NM_020746.5:c.118-63T>G MANE Select NP_065797.2:n.118-63T>G
NR_037921.2:n.255-63T>G
NM_001206491.2:c.-132+2831T>G NP_001193420.1:n.-132+2831T>G
NM_001385663.1:c.-430-63T>G NP_001372592.1:n.-430-63T>G