Canonical Allele Identifier: CA405692936

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39198770C>G (hg19) ; chr19:g.38708130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708130C>G , CM000681.2:g.38708130C>G	GRCh38
NC_000019.9:g.39198770C>G , CM000681.1:g.39198770C>G	GRCh37
NC_000019.8:g.43890610C>G	NCBI36
NG_007082.2:g.65444C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.586C>G	ENSP00000398393.2:p.Leu196Val
ENST00000697712.1:c.445C>G	ENSP00000513410.1:p.Leu149Val
ENST00000252699.7:c.586C>G MANE Select	ENSP00000252699.2:p.Leu196Val
ENST00000424234.7:c.586C>G	ENSP00000411187.4:p.Leu196Val
ENST00000440400.2:c.586C>G	ENSP00000398393.2:p.Leu196Val
ENST00000252699.6:c.586C>G	ENSP00000252699.2:p.Leu196Val
ENST00000390009.7:c.163-6339C>G	ENSP00000439497.1:n.163-6339C>G
ENST00000424234.6:c.272+7421C>G	ENSP00000411187.3:n.272+7421C>G
ENST00000495553.1:n.492C>G
ENST00000588618.5:n.683C>G
ENST00000589528.1:c.285+7416C>G
NM_004924.4:c.586C>G	NP_004915.2:p.Leu196Val
XM_005259281.3:c.586C>G	XP_005259338.1:p.Leu196Val
XM_005259282.3:c.586C>G	XP_005259339.1:p.Leu196Val
XM_006723406.1:c.586C>G	XP_006723469.1:p.Leu196Val
NM_001322033.1:c.586C>G	NP_001308962.1:p.Leu196Val
NM_004924.5:c.586C>G	NP_004915.2:p.Leu196Val
XM_005259281.5:c.586C>G	XP_005259338.1:p.Leu196Val
XM_006723406.3:c.586C>G	XP_006723469.1:p.Leu196Val
XM_017027331.2:c.586C>G	XP_016882820.1:p.Leu196Val
XR_001753937.1:n.123-5966G>C
NM_004924.6:c.586C>G MANE Select	NP_004915.2:p.Leu196Val
NM_001322033.2:c.586C>G	NP_001308962.1:p.Leu196Val