Canonical Allele Identifier: CA308133034

Gene: ACTN4

Linked Data

• dbSNP Id: rs898478281
• gnomAD v2: 19-39200914-C-T
• gnomAD v3: 19-38710274-C-T
• gnomAD v4: 19-38710274-C-T
• MyVariant Identifiers: chr19:g.39200914C>T (hg19) ; chr19:g.38710274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710274C>T , CM000681.2:g.38710274C>T	GRCh38
NC_000019.9:g.39200914C>T , CM000681.1:g.39200914C>T	GRCh37
NC_000019.8:g.43892754C>T	NCBI36
NG_007082.2:g.67588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+798C>T	ENSP00000398393.2:n.733+798C>T
ENST00000697712.1:c.610C>T	ENSP00000513410.1:p.Arg204Trp
ENST00000252699.7:c.751C>T MANE Select	ENSP00000252699.2:p.Arg251Trp
ENST00000424234.7:c.733+798C>T	ENSP00000411187.4:n.733+798C>T
ENST00000440400.2:c.733+798C>T	ENSP00000398393.2:n.733+798C>T
ENST00000252699.6:c.751C>T	ENSP00000252699.2:p.Arg251Trp
ENST00000390009.7:c.163-4195C>T	ENSP00000439497.1:n.163-4195C>T
ENST00000424234.6:c.272+9565C>T	ENSP00000411187.3:n.272+9565C>T
ENST00000586538.1:c.136+798C>T	ENSP00000465176.1:n.136+798C>T
ENST00000588618.5:n.848C>T
ENST00000589528.1:c.285+9560C>T
NM_004924.4:c.751C>T	NP_004915.2:p.Arg251Trp
XM_005259281.3:c.751C>T	XP_005259338.1:p.Arg251Trp
XM_005259282.3:c.733+798C>T	XP_005259339.1:n.733+798C>T
XM_006723406.1:c.733+798C>T	XP_006723469.1:n.733+798C>T
NM_001322033.1:c.733+798C>T	NP_001308962.1:n.733+798C>T
NM_004924.5:c.751C>T	NP_004915.2:p.Arg251Trp
XM_005259281.5:c.751C>T	XP_005259338.1:p.Arg251Trp
XM_006723406.3:c.733+798C>T	XP_006723469.1:n.733+798C>T
XM_017027331.2:c.751C>T	XP_016882820.1:p.Arg251Trp
XR_001753937.1:n.123-8110G>A
NM_004924.6:c.751C>T MANE Select	NP_004915.2:p.Arg251Trp
NM_001322033.2:c.733+798C>T	NP_001308962.1:n.733+798C>T