Canonical Allele Identifier: CA405706752

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39219973C>G (hg19) ; chr19:g.38729333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729333C>G , CM000681.2:g.38729333C>G	GRCh38
NC_000019.9:g.39219973C>G , CM000681.1:g.39219973C>G	GRCh37
NC_000019.8:g.43911813C>G	NCBI36
NG_007082.2:g.86647C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.2622C>G	ENSP00000398393.2:p.Cys874Trp
ENST00000697712.1:c.2496C>G	ENSP00000513410.1:p.Cys832Trp
ENST00000252699.7:c.2637C>G MANE Select	ENSP00000252699.2:p.Cys879Trp
ENST00000424234.7:c.2637C>G	ENSP00000411187.4:p.Cys879Trp
ENST00000440400.2:c.2622C>G	ENSP00000398393.2:p.Cys874Trp
ENST00000252699.6:c.2637C>G	ENSP00000252699.2:p.Cys879Trp
ENST00000390009.7:c.1980C>G	ENSP00000439497.1:p.Cys660Trp
ENST00000424234.6:c.1467C>G	ENSP00000411187.3:p.Cys489Trp
ENST00000440400.1:c.930C>G	ENSP00000398393.1:p.Cys310Trp
ENST00000477174.1:n.456C>G
ENST00000497637.5:n.390C>G
ENST00000589528.1:c.286-656C>G
NM_004924.4:c.2637C>G	NP_004915.2:p.Cys879Trp
XM_005259281.3:c.2622C>G	XP_005259338.1:p.Cys874Trp
XM_005259282.3:c.2622C>G	XP_005259339.1:p.Cys874Trp
XM_006723406.1:c.2637C>G	XP_006723469.1:p.Cys879Trp
NM_001322033.1:c.2622C>G	NP_001308962.1:p.Cys874Trp
NM_004924.5:c.2637C>G	NP_004915.2:p.Cys879Trp
XM_005259281.5:c.2622C>G	XP_005259338.1:p.Cys874Trp
XM_006723406.3:c.2637C>G	XP_006723469.1:p.Cys879Trp
XM_017027331.2:c.2703C>G	XP_016882820.1:p.Cys901Trp
NM_004924.6:c.2637C>G MANE Select	NP_004915.2:p.Cys879Trp
NM_001322033.2:c.2622C>G	NP_001308962.1:p.Cys874Trp