Canonical Allele Identifier: CA308136003
Community Standard Title: NM_004924.6(ACTN4):c.1067A>G (p.Asn356Ser)
Gene: ACTN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38717240A>G , CM000681.2:g.38717240A>G GRCh38
NC_000019.9:g.39207880A>G , CM000681.1:g.39207880A>G GRCh37
NC_000019.8:g.43899720A>G NCBI36
NG_007082.2:g.74554A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004924.6:c.1067A>G MANE Select NP_004915.2:p.Asn356Ser
ENST00000252699.7:c.1067A>G MANE Select ENSP00000252699.2:p.Asn356Ser
NM_001322033.1:c.1067A>G NP_001308962.1:p.Asn356Ser
NM_001322033.2:c.1067A>G NP_001308962.1:p.Asn356Ser
NM_004924.4:c.1067A>G NP_004915.2:p.Asn356Ser
NM_004924.5:c.1067A>G NP_004915.2:p.Asn356Ser
ENST00000252699.6:c.1067A>G ENSP00000252699.2:p.Asn356Ser
ENST00000390009.7:c.410A>G ENSP00000439497.1:p.Asn137Ser
ENST00000424234.6:c.273-6374A>G ENSP00000411187.3:n.273-6374A>G
ENST00000424234.7:c.1067A>G ENSP00000411187.4:p.Asn356Ser
ENST00000440400.2:c.1067A>G ENSP00000398393.2:p.Asn356Ser
ENST00000440400.3:c.1067A>G ENSP00000398393.2:p.Asn356Ser
ENST00000586538.1:c.470A>G ENSP00000465176.1:p.Asn157Ser
ENST00000588618.5:n.1164A>G
ENST00000589528.1:c.286-12749A>G
ENST00000697712.1:c.926A>G ENSP00000513410.1:p.Asn309Ser
XM_005259281.3:c.1067A>G XP_005259338.1:p.Asn356Ser
XM_005259281.5:c.1067A>G XP_005259338.1:p.Asn356Ser
XM_005259282.3:c.1067A>G XP_005259339.1:p.Asn356Ser
XM_006723406.1:c.1067A>G XP_006723469.1:p.Asn356Ser
XM_006723406.3:c.1067A>G XP_006723469.1:p.Asn356Ser
XM_017027331.2:c.1067A>G XP_016882820.1:p.Asn356Ser
XR_001753937.1:n.122+10948T>C