Canonical Allele Identifier: CA117534
Gene: ACTN4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5422
ClinVar RCV Id: RCV000005755
dbSNP Id: rs121908417

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710307T>C , CM000681.2:g.38710307T>C GRCh38
NC_000019.9:g.39200947T>C , CM000681.1:g.39200947T>C GRCh37
NC_000019.8:g.43892787T>C NCBI36
NG_007082.2:g.67621T>C

Transcript Alleles

HGVS Amino-acid change
NM_004924.4:c.784T>C VV NP_004915.2:p.Ser262Pro
XM_005259281.3:c.784T>C XP_005259338.1:p.Ser262Pro
XM_005259282.3:c.733+831T>C XP_005259339.1:p.=
XM_006723406.1:c.733+831T>C XP_006723469.1:p.=
NM_001322033.1:c.733+831T>C VV NP_001308962.1:p.=
NM_004924.5:c.784T>C VV NP_004915.2:p.Ser262Pro
XM_005259281.5:c.784T>C XP_005259338.1:p.Ser262Pro
XM_006723406.3:c.733+831T>C XP_006723469.1:p.=
XM_017027331.2:c.784T>C XP_016882820.1:p.Ser262Pro
XR_001753937.1:n.123-8143A>G
NM_004924.6:c.784T>C VV MANE Preferred NP_004915.2:p.Ser262Pro
ENST00000252699.6:c.784T>C ENSP00000252699.2:p.Ser262Pro
ENST00000390009.7:c.163-4162T>C ENSP00000439497.1:p.=
ENST00000424234.6:n.272+9598T>C ENSP00000411187.3:p.=
ENST00000586538.1:n.136+831T>C ENSP00000465176.1:p.=
ENST00000588618.5:n.881T>C
ENST00000589528.1:n.285+9593T>C