Canonical Allele Identifier: CA995738661

Gene: ACTN4

Linked Data

• dbSNP Id: rs1969396791
• gnomAD v3: 19-38729438-C-G
• gnomAD v4: 19-38729438-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729438C>G , CM000681.2:g.38729438C>G	GRCh38
NC_000019.9:g.39220078C>G , CM000681.1:g.39220078C>G	GRCh37
NC_000019.8:g.43911918C>G	NCBI36
NG_007082.2:g.86752C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.*6C>G	ENSP00000398393.2:n.*6C>G
ENST00000697712.1:c.2601C>G	ENSP00000513410.1:n.2601C>G
ENST00000252699.7:c.*6C>G MANE Select	ENSP00000252699.2:n.*6C>G
ENST00000424234.7:c.*6C>G	ENSP00000411187.4:n.*6C>G
ENST00000440400.2:c.*6C>G	ENSP00000398393.2:n.*6C>G
ENST00000252699.6:c.*6C>G	ENSP00000252699.2:n.*6C>G
ENST00000390009.7:c.*6C>G	ENSP00000439497.1:n.*6C>G
ENST00000440400.1:c.1035C>G	ENSP00000398393.1:n.1035C>G
ENST00000497637.5:n.495C>G
ENST00000589528.1:c.286-551C>G
NM_004924.4:c.*6C>G	NP_004915.2:n.*6C>G
XM_005259281.3:c.*6C>G	XP_005259338.1:n.*6C>G
XM_005259282.3:c.*6C>G	XP_005259339.1:n.*6C>G
XM_006723406.1:c.*6C>G	XP_006723469.1:n.*6C>G
NM_001322033.1:c.*6C>G	NP_001308962.1:n.*6C>G
NM_004924.5:c.*6C>G	NP_004915.2:n.*6C>G
XM_005259281.5:c.*6C>G	XP_005259338.1:n.*6C>G
XM_006723406.3:c.*6C>G	XP_006723469.1:n.*6C>G
XM_017027331.2:c.*6C>G	XP_016882820.1:n.*6C>G
NM_004924.6:c.*6C>G MANE Select	NP_004915.2:n.*6C>G
NM_001322033.2:c.*6C>G	NP_001308962.1:n.*6C>G