Canonical Allele Identifier: CA507356536

Gene: ACTN4

Linked Data

• dbSNP Id: rs1446538177
• gnomAD v2: 19-39219964-C-A
• gnomAD v3: 19-38729324-C-A
• gnomAD v4: 19-38729324-C-A
• MyVariant Identifiers: chr19:g.39219964C>A (hg19) ; chr19:g.38729324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729324C>A , CM000681.2:g.38729324C>A	GRCh38
NC_000019.9:g.39219964C>A , CM000681.1:g.39219964C>A	GRCh37
NC_000019.8:g.43911804C>A	NCBI36
NG_007082.2:g.86638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2613C>A	ENSP00000398393.2:p.Ala871=
ENST00000697712.1:c.2487C>A	ENSP00000513410.1:p.Ala829=
ENST00000252699.7:c.2628C>A MANE Select	ENSP00000252699.2:p.Ala876=
ENST00000424234.7:c.2628C>A	ENSP00000411187.4:p.Ala876=
ENST00000440400.2:c.2613C>A	ENSP00000398393.2:p.Ala871=
ENST00000252699.6:c.2628C>A	ENSP00000252699.2:p.Ala876=
ENST00000390009.7:c.1971C>A	ENSP00000439497.1:p.Ala657=
ENST00000424234.6:c.1458C>A	ENSP00000411187.3:p.Ala486=
ENST00000440400.1:c.921C>A	ENSP00000398393.1:p.Ala307=
ENST00000477174.1:n.447C>A
ENST00000497637.5:n.381C>A
ENST00000589528.1:c.286-665C>A
NM_004924.4:c.2628C>A	NP_004915.2:p.Ala876=
XM_005259281.3:c.2613C>A	XP_005259338.1:p.Ala871=
XM_005259282.3:c.2613C>A	XP_005259339.1:p.Ala871=
XM_006723406.1:c.2628C>A	XP_006723469.1:p.Ala876=
NM_001322033.1:c.2613C>A	NP_001308962.1:p.Ala871=
NM_004924.5:c.2628C>A	NP_004915.2:p.Ala876=
XM_005259281.5:c.2613C>A	XP_005259338.1:p.Ala871=
XM_006723406.3:c.2628C>A	XP_006723469.1:p.Ala876=
XM_017027331.2:c.2694C>A	XP_016882820.1:p.Ala898=
NM_004924.6:c.2628C>A MANE Select	NP_004915.2:p.Ala876=
NM_001322033.2:c.2613C>A	NP_001308962.1:p.Ala871=