Canonical Allele Identifier: CA308125853

Gene: ACTN4

Linked Data

• ClinVar Variation Id: 2247884
• ClinVar RCV Id: RCV002748575
• dbSNP Id: rs189577008
• MyVariant Identifiers: chr19:g.39220064G>T (hg19) ; chr19:g.38729424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729424G>T , CM000681.2:g.38729424G>T	GRCh38
NC_000019.9:g.39220064G>T , CM000681.1:g.39220064G>T	GRCh37
NC_000019.8:g.43911904G>T	NCBI36
NG_007082.2:g.86738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2713G>T	ENSP00000398393.2:p.Asp905Tyr
ENST00000697712.1:c.2587G>T	ENSP00000513410.1:p.Asp863Tyr
ENST00000252699.7:c.2728G>T MANE Select	ENSP00000252699.2:p.Asp910Tyr
ENST00000424234.7:c.2728G>T	ENSP00000411187.4:p.Asp910Tyr
ENST00000440400.2:c.2713G>T	ENSP00000398393.2:p.Asp905Tyr
ENST00000252699.6:c.2728G>T	ENSP00000252699.2:p.Asp910Tyr
ENST00000390009.7:c.2071G>T	ENSP00000439497.1:p.Asp691Tyr
ENST00000424234.6:c.1558G>T	ENSP00000411187.3:p.Asp520Tyr
ENST00000440400.1:c.1021G>T	ENSP00000398393.1:p.Asp341Tyr
ENST00000497637.5:n.481G>T
ENST00000589528.1:c.286-565G>T
NM_004924.4:c.2728G>T	NP_004915.2:p.Asp910Tyr
XM_005259281.3:c.2713G>T	XP_005259338.1:p.Asp905Tyr
XM_005259282.3:c.2713G>T	XP_005259339.1:p.Asp905Tyr
XM_006723406.1:c.2728G>T	XP_006723469.1:p.Asp910Tyr
NM_001322033.1:c.2713G>T	NP_001308962.1:p.Asp905Tyr
NM_004924.5:c.2728G>T	NP_004915.2:p.Asp910Tyr
XM_005259281.5:c.2713G>T	XP_005259338.1:p.Asp905Tyr
XM_006723406.3:c.2728G>T	XP_006723469.1:p.Asp910Tyr
XM_017027331.2:c.2794G>T	XP_016882820.1:p.Asp932Tyr
NM_004924.6:c.2728G>T MANE Select	NP_004915.2:p.Asp910Tyr
NM_001322033.2:c.2713G>T	NP_001308962.1:p.Asp905Tyr