Canonical Allele Identifier: CA405706697

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39219965G>C (hg19) ; chr19:g.38729325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729325G>C , CM000681.2:g.38729325G>C	GRCh38
NC_000019.9:g.39219965G>C , CM000681.1:g.39219965G>C	GRCh37
NC_000019.8:g.43911805G>C	NCBI36
NG_007082.2:g.86639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.2614G>C	ENSP00000398393.2:p.Glu872Gln
ENST00000697712.1:c.2488G>C	ENSP00000513410.1:p.Glu830Gln
ENST00000252699.7:c.2629G>C MANE Select	ENSP00000252699.2:p.Glu877Gln
ENST00000424234.7:c.2629G>C	ENSP00000411187.4:p.Glu877Gln
ENST00000440400.2:c.2614G>C	ENSP00000398393.2:p.Glu872Gln
ENST00000252699.6:c.2629G>C	ENSP00000252699.2:p.Glu877Gln
ENST00000390009.7:c.1972G>C	ENSP00000439497.1:p.Glu658Gln
ENST00000424234.6:c.1459G>C	ENSP00000411187.3:p.Glu487Gln
ENST00000440400.1:c.922G>C	ENSP00000398393.1:p.Glu308Gln
ENST00000477174.1:n.448G>C
ENST00000497637.5:n.382G>C
ENST00000589528.1:c.286-664G>C
NM_004924.4:c.2629G>C	NP_004915.2:p.Glu877Gln
XM_005259281.3:c.2614G>C	XP_005259338.1:p.Glu872Gln
XM_005259282.3:c.2614G>C	XP_005259339.1:p.Glu872Gln
XM_006723406.1:c.2629G>C	XP_006723469.1:p.Glu877Gln
NM_001322033.1:c.2614G>C	NP_001308962.1:p.Glu872Gln
NM_004924.5:c.2629G>C	NP_004915.2:p.Glu877Gln
XM_005259281.5:c.2614G>C	XP_005259338.1:p.Glu872Gln
XM_006723406.3:c.2629G>C	XP_006723469.1:p.Glu877Gln
XM_017027331.2:c.2695G>C	XP_016882820.1:p.Glu899Gln
NM_004924.6:c.2629G>C MANE Select	NP_004915.2:p.Glu877Gln
NM_001322033.2:c.2614G>C	NP_001308962.1:p.Glu872Gln