Canonical Allele Identifier: CA9418121

Gene: ACTN4

Linked Data

• ClinVar Variation Id: 2736887
• ClinVar RCV Id: RCV003560111
• dbSNP Id: rs527335986
• ExAC: 19:39219965 G / A
• gnomAD v2: 19-39219965-G-A
• gnomAD v3: 19-38729325-G-A
• gnomAD v4: 19-38729325-G-A
• MyVariant Identifiers: chr19:g.39219965G>A (hg19) ; chr19:g.38729325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729325G>A , CM000681.2:g.38729325G>A	GRCh38
NC_000019.9:g.39219965G>A , CM000681.1:g.39219965G>A	GRCh37
NC_000019.8:g.43911805G>A	NCBI36
NG_007082.2:g.86639G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.2614G>A	ENSP00000398393.2:p.Glu872Lys
ENST00000697712.1:c.2488G>A	ENSP00000513410.1:p.Glu830Lys
ENST00000252699.7:c.2629G>A MANE Select	ENSP00000252699.2:p.Glu877Lys
ENST00000424234.7:c.2629G>A	ENSP00000411187.4:p.Glu877Lys
ENST00000440400.2:c.2614G>A	ENSP00000398393.2:p.Glu872Lys
ENST00000252699.6:c.2629G>A	ENSP00000252699.2:p.Glu877Lys
ENST00000390009.7:c.1972G>A	ENSP00000439497.1:p.Glu658Lys
ENST00000424234.6:c.1459G>A	ENSP00000411187.3:p.Glu487Lys
ENST00000440400.1:c.922G>A	ENSP00000398393.1:p.Glu308Lys
ENST00000477174.1:n.448G>A
ENST00000497637.5:n.382G>A
ENST00000589528.1:c.286-664G>A
NM_004924.4:c.2629G>A	NP_004915.2:p.Glu877Lys
XM_005259281.3:c.2614G>A	XP_005259338.1:p.Glu872Lys
XM_005259282.3:c.2614G>A	XP_005259339.1:p.Glu872Lys
XM_006723406.1:c.2629G>A	XP_006723469.1:p.Glu877Lys
NM_001322033.1:c.2614G>A	NP_001308962.1:p.Glu872Lys
NM_004924.5:c.2629G>A	NP_004915.2:p.Glu877Lys
XM_005259281.5:c.2614G>A	XP_005259338.1:p.Glu872Lys
XM_006723406.3:c.2629G>A	XP_006723469.1:p.Glu877Lys
XM_017027331.2:c.2695G>A	XP_016882820.1:p.Glu899Lys
NM_004924.6:c.2629G>A MANE Select	NP_004915.2:p.Glu877Lys
NM_001322033.2:c.2614G>A	NP_001308962.1:p.Glu872Lys