Canonical Allele Identifier: CA9418152

Gene: ACTN4

Linked Data

• dbSNP Id: rs138223953
• ExAC: 19:39220067 C / G
• gnomAD v2: 19-39220067-C-G
• gnomAD v4: 19-38729427-C-G
• MyVariant Identifiers: chr19:g.39220067C>G (hg19) ; chr19:g.38729427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729427C>G , CM000681.2:g.38729427C>G	GRCh38
NC_000019.9:g.39220067C>G , CM000681.1:g.39220067C>G	GRCh37
NC_000019.8:g.43911907C>G	NCBI36
NG_007082.2:g.86741C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2716C>G	ENSP00000398393.2:p.Leu906Val
ENST00000697712.1:c.2590C>G	ENSP00000513410.1:p.Leu864Val
ENST00000252699.7:c.2731C>G MANE Select	ENSP00000252699.2:p.Leu911Val
ENST00000424234.7:c.2731C>G	ENSP00000411187.4:p.Leu911Val
ENST00000440400.2:c.2716C>G	ENSP00000398393.2:p.Leu906Val
ENST00000252699.6:c.2731C>G	ENSP00000252699.2:p.Leu911Val
ENST00000390009.7:c.2074C>G	ENSP00000439497.1:p.Leu692Val
ENST00000424234.6:c.1561C>G	ENSP00000411187.3:p.Leu521Val
ENST00000440400.1:c.1024C>G	ENSP00000398393.1:p.Leu342Val
ENST00000497637.5:n.484C>G
ENST00000589528.1:c.286-562C>G
NM_004924.4:c.2731C>G	NP_004915.2:p.Leu911Val
XM_005259281.3:c.2716C>G	XP_005259338.1:p.Leu906Val
XM_005259282.3:c.2716C>G	XP_005259339.1:p.Leu906Val
XM_006723406.1:c.2731C>G	XP_006723469.1:p.Leu911Val
NM_001322033.1:c.2716C>G	NP_001308962.1:p.Leu906Val
NM_004924.5:c.2731C>G	NP_004915.2:p.Leu911Val
XM_005259281.5:c.2716C>G	XP_005259338.1:p.Leu906Val
XM_006723406.3:c.2731C>G	XP_006723469.1:p.Leu911Val
XM_017027331.2:c.2797C>G	XP_016882820.1:p.Leu933Val
NM_004924.6:c.2731C>G MANE Select	NP_004915.2:p.Leu911Val
NM_001322033.2:c.2716C>G	NP_001308962.1:p.Leu906Val