Canonical Allele Identifier: CA405706744
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38729332G>C , CM000681.2:g.38729332G>C GRCh38
NC_000019.9:g.39219972G>C , CM000681.1:g.39219972G>C GRCh37
NC_000019.8:g.43911812G>C NCBI36
NG_007082.2:g.86646G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000440400.3:c.2621G>C ENSP00000398393.2:p.Cys874Ser
ENST00000697712.1:c.2495G>C ENSP00000513410.1:p.Cys832Ser
ENST00000252699.7:c.2636G>C MANE Select ENSP00000252699.2:p.Cys879Ser
ENST00000424234.7:c.2636G>C ENSP00000411187.4:p.Cys879Ser
ENST00000440400.2:c.2621G>C ENSP00000398393.2:p.Cys874Ser
ENST00000252699.6:c.2636G>C ENSP00000252699.2:p.Cys879Ser
ENST00000390009.7:c.1979G>C ENSP00000439497.1:p.Cys660Ser
ENST00000424234.6:c.1466G>C ENSP00000411187.3:p.Cys489Ser
ENST00000440400.1:c.929G>C ENSP00000398393.1:p.Cys310Ser
ENST00000477174.1:n.455G>C
ENST00000497637.5:n.389G>C
ENST00000589528.1:c.286-657G>C
NM_004924.4:c.2636G>C NP_004915.2:p.Cys879Ser
XM_005259281.3:c.2621G>C XP_005259338.1:p.Cys874Ser
XM_005259282.3:c.2621G>C XP_005259339.1:p.Cys874Ser
XM_006723406.1:c.2636G>C XP_006723469.1:p.Cys879Ser
NM_001322033.1:c.2621G>C NP_001308962.1:p.Cys874Ser
NM_004924.5:c.2636G>C NP_004915.2:p.Cys879Ser
XM_005259281.5:c.2621G>C XP_005259338.1:p.Cys874Ser
XM_006723406.3:c.2636G>C XP_006723469.1:p.Cys879Ser
XM_017027331.2:c.2702G>C XP_016882820.1:p.Cys901Ser
NM_004924.6:c.2636G>C MANE Select NP_004915.2:p.Cys879Ser
NM_001322033.2:c.2621G>C NP_001308962.1:p.Cys874Ser