Canonical Allele Identifier: CA408118375

Gene: MAVS

Linked Data

• dbSNP Id: rs775410649
• gnomAD v2: 20-3838294-G-C
• gnomAD v4: 20-3857647-G-C
• COSMIC: COSM1026762
• MyVariant Identifiers: chr20:g.3838294G>C (hg19) ; chr20:g.3857647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857647G>C , CM000682.2:g.3857647G>C	GRCh38
NC_000020.10:g.3838294G>C , CM000682.1:g.3838294G>C	GRCh37
NC_000020.9:g.3786294G>C	NCBI36
NG_030028.1:g.15849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.130G>C MANE Select	ENSP00000401980.2:p.Ala44Pro
ENST00000416600.6:c.-132+2906G>C	ENSP00000413749.2:n.-132+2906G>C
ENST00000428216.3:c.130G>C	ENSP00000401980.2:p.Ala44Pro
NM_001206491.1:c.-132+2906G>C	NP_001193420.1:n.-132+2906G>C
NM_020746.4:c.130G>C	NP_065797.2:p.Ala44Pro
NR_037921.1:n.302G>C
NM_020746.5:c.130G>C MANE Select	NP_065797.2:p.Ala44Pro
NR_037921.2:n.267G>C
NM_001206491.2:c.-132+2906G>C	NP_001193420.1:n.-132+2906G>C
NM_001385663.1:c.-418G>C	NP_001372592.1:n.-418G>C