Canonical Allele Identifier: CA308132950
Gene: ACTN4 HGNC NCBI

Linked Data

dbSNP Id: rs917641891

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710211C>T , CM000681.2:g.38710211C>T GRCh38
NC_000019.9:g.39200851C>T , CM000681.1:g.39200851C>T GRCh37
NC_000019.8:g.43892691C>T NCBI36
NG_007082.2:g.67525C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440400.3:c.733+735C>T ENSP00000398393.2:n.733+735C>T
ENST00000697712.1:c.593-46C>T ENSP00000513410.1:n.593-46C>T
ENST00000252699.7:c.734-46C>T MANE Select ENSP00000252699.2:n.734-46C>T
ENST00000424234.7:c.733+735C>T ENSP00000411187.4:n.733+735C>T
ENST00000440400.2:c.733+735C>T ENSP00000398393.2:n.733+735C>T
ENST00000252699.6:c.734-46C>T ENSP00000252699.2:n.734-46C>T
ENST00000390009.7:c.163-4258C>T ENSP00000439497.1:n.163-4258C>T
ENST00000424234.6:c.272+9502C>T ENSP00000411187.3:n.272+9502C>T
ENST00000586538.1:c.136+735C>T ENSP00000465176.1:n.136+735C>T
ENST00000588618.5:n.831-46C>T
ENST00000589528.1:c.285+9497C>T
NM_004924.4:c.734-46C>T NP_004915.2:n.734-46C>T
XM_005259281.3:c.734-46C>T XP_005259338.1:n.734-46C>T
XM_005259282.3:c.733+735C>T XP_005259339.1:n.733+735C>T
XM_006723406.1:c.733+735C>T XP_006723469.1:n.733+735C>T
NM_001322033.1:c.733+735C>T NP_001308962.1:n.733+735C>T
NM_004924.5:c.734-46C>T NP_004915.2:n.734-46C>T
XM_005259281.5:c.734-46C>T XP_005259338.1:n.734-46C>T
XM_006723406.3:c.733+735C>T XP_006723469.1:n.733+735C>T
XM_017027331.2:c.734-46C>T XP_016882820.1:n.734-46C>T
XR_001753937.1:n.123-8047G>A
NM_004924.6:c.734-46C>T MANE Select NP_004915.2:n.734-46C>T
NM_001322033.2:c.733+735C>T NP_001308962.1:n.733+735C>T