Canonical Allele Identifier: CA308125755

Gene: ACTN4

Linked Data

• dbSNP Id: rs945344270
• gnomAD v2: 19-39219966-A-G
• gnomAD v4: 19-38729326-A-G
• MyVariant Identifiers: chr19:g.39219966A>G (hg19) ; chr19:g.38729326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729326A>G , CM000681.2:g.38729326A>G	GRCh38
NC_000019.9:g.39219966A>G , CM000681.1:g.39219966A>G	GRCh37
NC_000019.8:g.43911806A>G	NCBI36
NG_007082.2:g.86640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2615A>G	ENSP00000398393.2:p.Glu872Gly
ENST00000697712.1:c.2489A>G	ENSP00000513410.1:p.Glu830Gly
ENST00000252699.7:c.2630A>G MANE Select	ENSP00000252699.2:p.Glu877Gly
ENST00000424234.7:c.2630A>G	ENSP00000411187.4:p.Glu877Gly
ENST00000440400.2:c.2615A>G	ENSP00000398393.2:p.Glu872Gly
ENST00000252699.6:c.2630A>G	ENSP00000252699.2:p.Glu877Gly
ENST00000390009.7:c.1973A>G	ENSP00000439497.1:p.Glu658Gly
ENST00000424234.6:c.1460A>G	ENSP00000411187.3:p.Glu487Gly
ENST00000440400.1:c.923A>G	ENSP00000398393.1:p.Glu308Gly
ENST00000477174.1:n.449A>G
ENST00000497637.5:n.383A>G
ENST00000589528.1:c.286-663A>G
NM_004924.4:c.2630A>G	NP_004915.2:p.Glu877Gly
XM_005259281.3:c.2615A>G	XP_005259338.1:p.Glu872Gly
XM_005259282.3:c.2615A>G	XP_005259339.1:p.Glu872Gly
XM_006723406.1:c.2630A>G	XP_006723469.1:p.Glu877Gly
NM_001322033.1:c.2615A>G	NP_001308962.1:p.Glu872Gly
NM_004924.5:c.2630A>G	NP_004915.2:p.Glu877Gly
XM_005259281.5:c.2615A>G	XP_005259338.1:p.Glu872Gly
XM_006723406.3:c.2630A>G	XP_006723469.1:p.Glu877Gly
XM_017027331.2:c.2696A>G	XP_016882820.1:p.Glu899Gly
NM_004924.6:c.2630A>G MANE Select	NP_004915.2:p.Glu877Gly
NM_001322033.2:c.2615A>G	NP_001308962.1:p.Glu872Gly