Canonical Allele Identifier: CA507247403

Gene: ACTN4

Linked Data

• dbSNP Id: rs1452471987
• MyVariant Identifiers: chr19:g.39200904G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710264G>A , CM000681.2:g.38710264G>A	GRCh38
NC_000019.9:g.39200904G>A , CM000681.1:g.39200904G>A	GRCh37
NC_000019.8:g.43892744G>A	NCBI36
NG_007082.2:g.67578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+788G>A	ENSP00000398393.2:n.733+788G>A
ENST00000697712.1:c.600G>A	ENSP00000513410.1:p.Val200=
ENST00000252699.7:c.741G>A MANE Select	ENSP00000252699.2:p.Val247=
ENST00000424234.7:c.733+788G>A	ENSP00000411187.4:n.733+788G>A
ENST00000440400.2:c.733+788G>A	ENSP00000398393.2:n.733+788G>A
ENST00000252699.6:c.741G>A	ENSP00000252699.2:p.Val247=
ENST00000390009.7:c.163-4205G>A	ENSP00000439497.1:n.163-4205G>A
ENST00000424234.6:c.272+9555G>A	ENSP00000411187.3:n.272+9555G>A
ENST00000586538.1:c.136+788G>A	ENSP00000465176.1:n.136+788G>A
ENST00000588618.5:n.838G>A
ENST00000589528.1:c.285+9550G>A
NM_004924.4:c.741G>A	NP_004915.2:p.Val247=
XM_005259281.3:c.741G>A	XP_005259338.1:p.Val247=
XM_005259282.3:c.733+788G>A	XP_005259339.1:n.733+788G>A
XM_006723406.1:c.733+788G>A	XP_006723469.1:n.733+788G>A
NM_001322033.1:c.733+788G>A	NP_001308962.1:n.733+788G>A
NM_004924.5:c.741G>A	NP_004915.2:p.Val247=
XM_005259281.5:c.741G>A	XP_005259338.1:p.Val247=
XM_006723406.3:c.733+788G>A	XP_006723469.1:n.733+788G>A
XM_017027331.2:c.741G>A	XP_016882820.1:p.Val247=
XR_001753937.1:n.123-8100C>T
NM_004924.6:c.741G>A MANE Select	NP_004915.2:p.Val247=
NM_001322033.2:c.733+788G>A	NP_001308962.1:n.733+788G>A