Canonical Allele Identifier: CA117533
Gene: ACTN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5421
ClinVar RCV Id: RCV000005754 RCV000991481
dbSNP Id: rs121908416
MyVariant Identifiers: chr19:g.39200939C>T (hg19) chr19:g.38710299C>T (hg38)
PubMed: PMID:10700177
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710299C>T , CM000681.2:g.38710299C>T GRCh38
NC_000019.9:g.39200939C>T , CM000681.1:g.39200939C>T GRCh37
NC_000019.8:g.43892779C>T NCBI36
NG_007082.2:g.67613C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440400.3:c.733+823C>T ENSP00000398393.2:n.733+823C>T
ENST00000697712.1:c.635C>T ENSP00000513410.1:p.Thr212Ile
ENST00000252699.7:c.776C>T MANE Select ENSP00000252699.2:p.Thr259Ile
ENST00000424234.7:c.733+823C>T ENSP00000411187.4:n.733+823C>T
ENST00000440400.2:c.733+823C>T ENSP00000398393.2:n.733+823C>T
ENST00000252699.6:c.776C>T ENSP00000252699.2:p.Thr259Ile
ENST00000390009.7:c.163-4170C>T ENSP00000439497.1:n.163-4170C>T
ENST00000424234.6:c.272+9590C>T ENSP00000411187.3:n.272+9590C>T
ENST00000586538.1:c.136+823C>T ENSP00000465176.1:n.136+823C>T
ENST00000588618.5:n.873C>T
ENST00000589528.1:c.285+9585C>T
NM_004924.4:c.776C>T NP_004915.2:p.Thr259Ile
XM_005259281.3:c.776C>T XP_005259338.1:p.Thr259Ile
XM_005259282.3:c.733+823C>T XP_005259339.1:n.733+823C>T
XM_006723406.1:c.733+823C>T XP_006723469.1:n.733+823C>T
NM_001322033.1:c.733+823C>T NP_001308962.1:n.733+823C>T
NM_004924.5:c.776C>T NP_004915.2:p.Thr259Ile
XM_005259281.5:c.776C>T XP_005259338.1:p.Thr259Ile
XM_006723406.3:c.733+823C>T XP_006723469.1:n.733+823C>T
XM_017027331.2:c.776C>T XP_016882820.1:p.Thr259Ile
XR_001753937.1:n.123-8135G>A
NM_004924.6:c.776C>T MANE Select NP_004915.2:p.Thr259Ile
NM_001322033.2:c.733+823C>T NP_001308962.1:n.733+823C>T
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