Canonical Allele Identifier: CA509425187

Gene: MAVS

Linked Data

• MyVariant Identifiers: chr20:g.3838290G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857643G>C , CM000682.2:g.3857643G>C	GRCh38
NC_000020.10:g.3838290G>C , CM000682.1:g.3838290G>C	GRCh37
NC_000020.9:g.3786290G>C	NCBI36
NG_030028.1:g.15845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.126G>C MANE Select	ENSP00000401980.2:p.Leu42=
ENST00000416600.6:c.-132+2902G>C	ENSP00000413749.2:n.-132+2902G>C
ENST00000428216.3:c.126G>C	ENSP00000401980.2:p.Leu42=
NM_001206491.1:c.-132+2902G>C	NP_001193420.1:n.-132+2902G>C
NM_020746.4:c.126G>C	NP_065797.2:p.Leu42=
NR_037921.1:n.298G>C
NM_020746.5:c.126G>C MANE Select	NP_065797.2:p.Leu42=
NR_037921.2:n.263G>C
NM_001206491.2:c.-132+2902G>C	NP_001193420.1:n.-132+2902G>C
NM_001385663.1:c.-422G>C	NP_001372592.1:n.-422G>C