Canonical Allele Identifier: CA507247022

Gene: ACTN4

Linked Data

• gnomAD v4: 19-38708138-C-T
• MyVariant Identifiers: chr19:g.39198778C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708138C>T , CM000681.2:g.38708138C>T	GRCh38
NC_000019.9:g.39198778C>T , CM000681.1:g.39198778C>T	GRCh37
NC_000019.8:g.43890618C>T	NCBI36
NG_007082.2:g.65452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.594C>T	ENSP00000398393.2:p.Phe198=
ENST00000697712.1:c.453C>T	ENSP00000513410.1:p.Phe151=
ENST00000252699.7:c.594C>T MANE Select	ENSP00000252699.2:p.Phe198=
ENST00000424234.7:c.594C>T	ENSP00000411187.4:p.Phe198=
ENST00000440400.2:c.594C>T	ENSP00000398393.2:p.Phe198=
ENST00000252699.6:c.594C>T	ENSP00000252699.2:p.Phe198=
ENST00000390009.7:c.163-6331C>T	ENSP00000439497.1:n.163-6331C>T
ENST00000424234.6:c.272+7429C>T	ENSP00000411187.3:n.272+7429C>T
ENST00000495553.1:n.500C>T
ENST00000588618.5:n.691C>T
ENST00000589528.1:c.285+7424C>T
NM_004924.4:c.594C>T	NP_004915.2:p.Phe198=
XM_005259281.3:c.594C>T	XP_005259338.1:p.Phe198=
XM_005259282.3:c.594C>T	XP_005259339.1:p.Phe198=
XM_006723406.1:c.594C>T	XP_006723469.1:p.Phe198=
NM_001322033.1:c.594C>T	NP_001308962.1:p.Phe198=
NM_004924.5:c.594C>T	NP_004915.2:p.Phe198=
XM_005259281.5:c.594C>T	XP_005259338.1:p.Phe198=
XM_006723406.3:c.594C>T	XP_006723469.1:p.Phe198=
XM_017027331.2:c.594C>T	XP_016882820.1:p.Phe198=
XR_001753937.1:n.123-5974G>A
NM_004924.6:c.594C>T MANE Select	NP_004915.2:p.Phe198=
NM_001322033.2:c.594C>T	NP_001308962.1:p.Phe198=