Canonical Allele Identifier: CA507356748

Gene: ACTN4

Linked Data

• dbSNP Id: rs1339491252
• gnomAD v3: 19-38729426-C-T
• gnomAD v4: 19-38729426-C-T
• MyVariant Identifiers: chr19:g.39220066C>T (hg19) ; chr19:g.38729426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729426C>T , CM000681.2:g.38729426C>T	GRCh38
NC_000019.9:g.39220066C>T , CM000681.1:g.39220066C>T	GRCh37
NC_000019.8:g.43911906C>T	NCBI36
NG_007082.2:g.86740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2715C>T	ENSP00000398393.2:p.Asp905=
ENST00000697712.1:c.2589C>T	ENSP00000513410.1:p.Asp863=
ENST00000252699.7:c.2730C>T MANE Select	ENSP00000252699.2:p.Asp910=
ENST00000424234.7:c.2730C>T	ENSP00000411187.4:p.Asp910=
ENST00000440400.2:c.2715C>T	ENSP00000398393.2:p.Asp905=
ENST00000252699.6:c.2730C>T	ENSP00000252699.2:p.Asp910=
ENST00000390009.7:c.2073C>T	ENSP00000439497.1:p.Asp691=
ENST00000424234.6:c.1560C>T	ENSP00000411187.3:p.Asp520=
ENST00000440400.1:c.1023C>T	ENSP00000398393.1:p.Asp341=
ENST00000497637.5:n.483C>T
ENST00000589528.1:c.286-563C>T
NM_004924.4:c.2730C>T	NP_004915.2:p.Asp910=
XM_005259281.3:c.2715C>T	XP_005259338.1:p.Asp905=
XM_005259282.3:c.2715C>T	XP_005259339.1:p.Asp905=
XM_006723406.1:c.2730C>T	XP_006723469.1:p.Asp910=
NM_001322033.1:c.2715C>T	NP_001308962.1:p.Asp905=
NM_004924.5:c.2730C>T	NP_004915.2:p.Asp910=
XM_005259281.5:c.2715C>T	XP_005259338.1:p.Asp905=
XM_006723406.3:c.2730C>T	XP_006723469.1:p.Asp910=
XM_017027331.2:c.2796C>T	XP_016882820.1:p.Asp932=
NM_004924.6:c.2730C>T MANE Select	NP_004915.2:p.Asp910=
NM_001322033.2:c.2715C>T	NP_001308962.1:p.Asp905=