Canonical Allele Identifier: CA9749978

Gene: MAVS

Linked Data

• dbSNP Id: rs762647188
• ExAC: 20:3838296 C / T
• gnomAD v2: 20-3838296-C-T
• gnomAD v4: 20-3857649-C-T
• MyVariant Identifiers: chr20:g.3838296C>T (hg19) ; chr20:g.3857649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857649C>T , CM000682.2:g.3857649C>T	GRCh38
NC_000020.10:g.3838296C>T , CM000682.1:g.3838296C>T	GRCh37
NC_000020.9:g.3786296C>T	NCBI36
NG_030028.1:g.15851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.132C>T MANE Select	ENSP00000401980.2:p.Ala44=
ENST00000416600.6:c.-132+2908C>T	ENSP00000413749.2:n.-132+2908C>T
ENST00000428216.3:c.132C>T	ENSP00000401980.2:p.Ala44=
NM_001206491.1:c.-132+2908C>T	NP_001193420.1:n.-132+2908C>T
NM_020746.4:c.132C>T	NP_065797.2:p.Ala44=
NR_037921.1:n.304C>T
NM_020746.5:c.132C>T MANE Select	NP_065797.2:p.Ala44=
NR_037921.2:n.269C>T
NM_001206491.2:c.-132+2908C>T	NP_001193420.1:n.-132+2908C>T
NM_001385663.1:c.-416C>T	NP_001372592.1:n.-416C>T