Canonical Allele Identifier: CA507356541

Gene: ACTN4

Linked Data

• ClinVar Variation Id: 3048713
• ClinVar RCV Id: RCV003944340
• dbSNP Id: rs1240492426
• gnomAD v2: 19-39219967-G-A
• gnomAD v4: 19-38729327-G-A
• MyVariant Identifiers: chr19:g.39219967G>A (hg19) ; chr19:g.38729327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729327G>A , CM000681.2:g.38729327G>A	GRCh38
NC_000019.9:g.39219967G>A , CM000681.1:g.39219967G>A	GRCh37
NC_000019.8:g.43911807G>A	NCBI36
NG_007082.2:g.86641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2616G>A	ENSP00000398393.2:p.Glu872=
ENST00000697712.1:c.2490G>A	ENSP00000513410.1:p.Glu830=
ENST00000252699.7:c.2631G>A MANE Select	ENSP00000252699.2:p.Glu877=
ENST00000424234.7:c.2631G>A	ENSP00000411187.4:p.Glu877=
ENST00000440400.2:c.2616G>A	ENSP00000398393.2:p.Glu872=
ENST00000252699.6:c.2631G>A	ENSP00000252699.2:p.Glu877=
ENST00000390009.7:c.1974G>A	ENSP00000439497.1:p.Glu658=
ENST00000424234.6:c.1461G>A	ENSP00000411187.3:p.Glu487=
ENST00000440400.1:c.924G>A	ENSP00000398393.1:p.Glu308=
ENST00000477174.1:n.450G>A
ENST00000497637.5:n.384G>A
ENST00000589528.1:c.286-662G>A
NM_004924.4:c.2631G>A	NP_004915.2:p.Glu877=
XM_005259281.3:c.2616G>A	XP_005259338.1:p.Glu872=
XM_005259282.3:c.2616G>A	XP_005259339.1:p.Glu872=
XM_006723406.1:c.2631G>A	XP_006723469.1:p.Glu877=
NM_001322033.1:c.2616G>A	NP_001308962.1:p.Glu872=
NM_004924.5:c.2631G>A	NP_004915.2:p.Glu877=
XM_005259281.5:c.2616G>A	XP_005259338.1:p.Glu872=
XM_006723406.3:c.2631G>A	XP_006723469.1:p.Glu877=
XM_017027331.2:c.2697G>A	XP_016882820.1:p.Glu899=
NM_004924.6:c.2631G>A MANE Select	NP_004915.2:p.Glu877=
NM_001322033.2:c.2616G>A	NP_001308962.1:p.Glu872=