Canonical Allele Identifier: CA405707441
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38729431G>C , CM000681.2:g.38729431G>C GRCh38
NC_000019.9:g.39220071G>C , CM000681.1:g.39220071G>C GRCh37
NC_000019.8:g.43911911G>C NCBI36
NG_007082.2:g.86745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440400.3:c.2720G>C ENSP00000398393.2:p.Ter907Ser
ENST00000697712.1:c.2594G>C ENSP00000513410.1:p.Ter865Ser
ENST00000252699.7:c.2735G>C MANE Select ENSP00000252699.2:p.Ter912Ser
ENST00000424234.7:c.2735G>C ENSP00000411187.4:p.Ter912Ser
ENST00000440400.2:c.2720G>C ENSP00000398393.2:p.Ter907Ser
ENST00000252699.6:c.2735G>C ENSP00000252699.2:p.Ter912Ser
ENST00000390009.7:c.2078G>C ENSP00000439497.1:p.Ter693Ser
ENST00000424234.6:c.1565G>C ENSP00000411187.3:p.Ter522Ser
ENST00000440400.1:c.1028G>C ENSP00000398393.1:p.Ter343Ser
ENST00000497637.5:n.488G>C
ENST00000589528.1:c.286-558G>C
NM_004924.4:c.2735G>C NP_004915.2:p.Ter912Ser
XM_005259281.3:c.2720G>C XP_005259338.1:p.Ter907Ser
XM_005259282.3:c.2720G>C XP_005259339.1:p.Ter907Ser
XM_006723406.1:c.2735G>C XP_006723469.1:p.Ter912Ser
NM_001322033.1:c.2720G>C NP_001308962.1:p.Ter907Ser
NM_004924.5:c.2735G>C NP_004915.2:p.Ter912Ser
XM_005259281.5:c.2720G>C XP_005259338.1:p.Ter907Ser
XM_006723406.3:c.2735G>C XP_006723469.1:p.Ter912Ser
XM_017027331.2:c.2801G>C XP_016882820.1:p.Ter934Ser
NM_004924.6:c.2735G>C MANE Select NP_004915.2:p.Ter912Ser
NM_001322033.2:c.2720G>C NP_001308962.1:p.Ter907Ser