Canonical Allele Identifier: CA308133055

Gene: ACTN4

Linked Data

• dbSNP Id: rs1004686336
• gnomAD v2: 19-39200923-G-A
• gnomAD v3: 19-38710283-G-A
• gnomAD v4: 19-38710283-G-A
• MyVariant Identifiers: chr19:g.39200923G>A (hg19) ; chr19:g.38710283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710283G>A , CM000681.2:g.38710283G>A	GRCh38
NC_000019.9:g.39200923G>A , CM000681.1:g.39200923G>A	GRCh37
NC_000019.8:g.43892763G>A	NCBI36
NG_007082.2:g.67597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+807G>A	ENSP00000398393.2:n.733+807G>A
ENST00000697712.1:c.619G>A	ENSP00000513410.1:p.Glu207Lys
ENST00000252699.7:c.760G>A MANE Select	ENSP00000252699.2:p.Glu254Lys
ENST00000424234.7:c.733+807G>A	ENSP00000411187.4:n.733+807G>A
ENST00000440400.2:c.733+807G>A	ENSP00000398393.2:n.733+807G>A
ENST00000252699.6:c.760G>A	ENSP00000252699.2:p.Glu254Lys
ENST00000390009.7:c.163-4186G>A	ENSP00000439497.1:n.163-4186G>A
ENST00000424234.6:c.272+9574G>A	ENSP00000411187.3:n.272+9574G>A
ENST00000586538.1:c.136+807G>A	ENSP00000465176.1:n.136+807G>A
ENST00000588618.5:n.857G>A
ENST00000589528.1:c.285+9569G>A
NM_004924.4:c.760G>A	NP_004915.2:p.Glu254Lys
XM_005259281.3:c.760G>A	XP_005259338.1:p.Glu254Lys
XM_005259282.3:c.733+807G>A	XP_005259339.1:n.733+807G>A
XM_006723406.1:c.733+807G>A	XP_006723469.1:n.733+807G>A
NM_001322033.1:c.733+807G>A	NP_001308962.1:n.733+807G>A
NM_004924.5:c.760G>A	NP_004915.2:p.Glu254Lys
XM_005259281.5:c.760G>A	XP_005259338.1:p.Glu254Lys
XM_006723406.3:c.733+807G>A	XP_006723469.1:n.733+807G>A
XM_017027331.2:c.760G>A	XP_016882820.1:p.Glu254Lys
XR_001753937.1:n.123-8119C>T
NM_004924.6:c.760G>A MANE Select	NP_004915.2:p.Glu254Lys
NM_001322033.2:c.733+807G>A	NP_001308962.1:n.733+807G>A