Canonical Allele Identifier: CA2651759211
Gene: MAVS HGNC NCBI

Linked Data

gnomAD v4: 20-3857571-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3857571T>C , CM000682.2:g.3857571T>C GRCh38
NC_000020.10:g.3838218T>C , CM000682.1:g.3838218T>C GRCh37
NC_000020.9:g.3786218T>C NCBI36
NG_030028.1:g.15773T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000428216.4:c.118-64T>C MANE Select ENSP00000401980.2:n.118-64T>C
ENST00000416600.6:c.-132+2830T>C ENSP00000413749.2:n.-132+2830T>C
ENST00000428216.3:c.118-64T>C ENSP00000401980.2:n.118-64T>C
NM_001206491.1:c.-132+2830T>C NP_001193420.1:n.-132+2830T>C
NM_020746.4:c.118-64T>C NP_065797.2:n.118-64T>C
NR_037921.1:n.290-64T>C
NM_020746.5:c.118-64T>C MANE Select NP_065797.2:n.118-64T>C
NR_037921.2:n.255-64T>C
NM_001206491.2:c.-132+2830T>C NP_001193420.1:n.-132+2830T>C
NM_001385663.1:c.-430-64T>C NP_001372592.1:n.-430-64T>C