Canonical Allele Identifier: CA9750015

Gene: MAVS

Linked Data

• ClinVar Variation Id: 2392574
• ClinVar RCV Id: RCV004227987
• dbSNP Id: rs367892824
• ExAC: 20:3838454 C / T
• gnomAD v2: 20-3838454-C-T
• gnomAD v3: 20-3857807-C-T
• gnomAD v4: 20-3857807-C-T
• MyVariant Identifiers: chr20:g.3838454C>T (hg19) ; chr20:g.3857807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857807C>T , CM000682.2:g.3857807C>T	GRCh38
NC_000020.10:g.3838454C>T , CM000682.1:g.3838454C>T	GRCh37
NC_000020.9:g.3786454C>T	NCBI36
NG_030028.1:g.16009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.290C>T MANE Select	ENSP00000401980.2:p.Pro97Leu
ENST00000416600.6:c.-132+3066C>T	ENSP00000413749.2:n.-132+3066C>T
ENST00000428216.3:c.290C>T	ENSP00000401980.2:p.Pro97Leu
NM_001206491.1:c.-132+3066C>T	NP_001193420.1:n.-132+3066C>T
NM_020746.4:c.290C>T	NP_065797.2:p.Pro97Leu
NR_037921.1:n.462C>T
NM_020746.5:c.290C>T MANE Select	NP_065797.2:p.Pro97Leu
NR_037921.2:n.427C>T
NM_001206491.2:c.-132+3066C>T	NP_001193420.1:n.-132+3066C>T
NM_001385663.1:c.-258C>T	NP_001372592.1:n.-258C>T