Canonical Allele Identifier: CA2651759266

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857855-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857855G>C , CM000682.2:g.3857855G>C	GRCh38
NC_000020.10:g.3838502G>C , CM000682.1:g.3838502G>C	GRCh37
NC_000020.9:g.3786502G>C	NCBI36
NG_030028.1:g.16057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.292+46G>C MANE Select	ENSP00000401980.2:n.292+46G>C
ENST00000416600.6:c.-132+3114G>C	ENSP00000413749.2:n.-132+3114G>C
ENST00000428216.3:c.292+46G>C	ENSP00000401980.2:n.292+46G>C
NM_001206491.1:c.-132+3114G>C	NP_001193420.1:n.-132+3114G>C
NM_020746.4:c.292+46G>C	NP_065797.2:n.292+46G>C
NR_037921.1:n.464+46G>C
NM_020746.5:c.292+46G>C MANE Select	NP_065797.2:n.292+46G>C
NR_037921.2:n.429+46G>C
NM_001206491.2:c.-132+3114G>C	NP_001193420.1:n.-132+3114G>C
NM_001385663.1:c.-256+46G>C	NP_001372592.1:n.-256+46G>C