Canonical Allele Identifier: CA405697586
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710331G>C , CM000681.2:g.38710331G>C GRCh38
NC_000019.9:g.39200971G>C , CM000681.1:g.39200971G>C GRCh37
NC_000019.8:g.43892811G>C NCBI36
NG_007082.2:g.67645G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440400.3:c.733+855G>C ENSP00000398393.2:n.733+855G>C
ENST00000697712.1:c.667G>C ENSP00000513410.1:p.Gly223Arg
ENST00000252699.7:c.808G>C MANE Select ENSP00000252699.2:p.Gly270Arg
ENST00000424234.7:c.733+855G>C ENSP00000411187.4:n.733+855G>C
ENST00000440400.2:c.733+855G>C ENSP00000398393.2:n.733+855G>C
ENST00000252699.6:c.808G>C ENSP00000252699.2:p.Gly270Arg
ENST00000390009.7:c.163-4138G>C ENSP00000439497.1:n.163-4138G>C
ENST00000424234.6:c.272+9622G>C ENSP00000411187.3:n.272+9622G>C
ENST00000586538.1:c.136+855G>C ENSP00000465176.1:n.136+855G>C
ENST00000588618.5:n.905G>C
ENST00000589528.1:c.285+9617G>C
NM_004924.4:c.808G>C NP_004915.2:p.Gly270Arg
XM_005259281.3:c.808G>C XP_005259338.1:p.Gly270Arg
XM_005259282.3:c.733+855G>C XP_005259339.1:n.733+855G>C
XM_006723406.1:c.733+855G>C XP_006723469.1:n.733+855G>C
NM_001322033.1:c.733+855G>C NP_001308962.1:n.733+855G>C
NM_004924.5:c.808G>C NP_004915.2:p.Gly270Arg
XM_005259281.5:c.808G>C XP_005259338.1:p.Gly270Arg
XM_006723406.3:c.733+855G>C XP_006723469.1:n.733+855G>C
XM_017027331.2:c.808G>C XP_016882820.1:p.Gly270Arg
XR_001753937.1:n.123-8167C>G
NM_004924.6:c.808G>C MANE Select NP_004915.2:p.Gly270Arg
NM_001322033.2:c.733+855G>C NP_001308962.1:n.733+855G>C