Canonical Allele Identifier: CA405707423

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39220068T>A (hg19) ; chr19:g.38729428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729428T>A , CM000681.2:g.38729428T>A	GRCh38
NC_000019.9:g.39220068T>A , CM000681.1:g.39220068T>A	GRCh37
NC_000019.8:g.43911908T>A	NCBI36
NG_007082.2:g.86742T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.2717T>A	ENSP00000398393.2:p.Leu906Gln
ENST00000697712.1:c.2591T>A	ENSP00000513410.1:p.Leu864Gln
ENST00000252699.7:c.2732T>A MANE Select	ENSP00000252699.2:p.Leu911Gln
ENST00000424234.7:c.2732T>A	ENSP00000411187.4:p.Leu911Gln
ENST00000440400.2:c.2717T>A	ENSP00000398393.2:p.Leu906Gln
ENST00000252699.6:c.2732T>A	ENSP00000252699.2:p.Leu911Gln
ENST00000390009.7:c.2075T>A	ENSP00000439497.1:p.Leu692Gln
ENST00000424234.6:c.1562T>A	ENSP00000411187.3:p.Leu521Gln
ENST00000440400.1:c.1025T>A	ENSP00000398393.1:p.Leu342Gln
ENST00000497637.5:n.485T>A
ENST00000589528.1:c.286-561T>A
NM_004924.4:c.2732T>A	NP_004915.2:p.Leu911Gln
XM_005259281.3:c.2717T>A	XP_005259338.1:p.Leu906Gln
XM_005259282.3:c.2717T>A	XP_005259339.1:p.Leu906Gln
XM_006723406.1:c.2732T>A	XP_006723469.1:p.Leu911Gln
NM_001322033.1:c.2717T>A	NP_001308962.1:p.Leu906Gln
NM_004924.5:c.2732T>A	NP_004915.2:p.Leu911Gln
XM_005259281.5:c.2717T>A	XP_005259338.1:p.Leu906Gln
XM_006723406.3:c.2732T>A	XP_006723469.1:p.Leu911Gln
XM_017027331.2:c.2798T>A	XP_016882820.1:p.Leu933Gln
NM_004924.6:c.2732T>A MANE Select	NP_004915.2:p.Leu911Gln
NM_001322033.2:c.2717T>A	NP_001308962.1:p.Leu906Gln