Canonical Allele Identifier: CA507247046

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39198811G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708171G>C , CM000681.2:g.38708171G>C	GRCh38
NC_000019.9:g.39198811G>C , CM000681.1:g.39198811G>C	GRCh37
NC_000019.8:g.43890651G>C	NCBI36
NG_007082.2:g.65485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.627G>C	ENSP00000398393.2:p.Leu209=
ENST00000697712.1:c.486G>C	ENSP00000513410.1:p.Leu162=
ENST00000252699.7:c.627G>C MANE Select	ENSP00000252699.2:p.Leu209=
ENST00000424234.7:c.627G>C	ENSP00000411187.4:p.Leu209=
ENST00000440400.2:c.627G>C	ENSP00000398393.2:p.Leu209=
ENST00000252699.6:c.627G>C	ENSP00000252699.2:p.Leu209=
ENST00000390009.7:c.163-6298G>C	ENSP00000439497.1:n.163-6298G>C
ENST00000424234.6:c.272+7462G>C	ENSP00000411187.3:n.272+7462G>C
ENST00000495553.1:n.533G>C
ENST00000586538.1:c.30G>C	ENSP00000465176.1:p.Leu10=
ENST00000588618.5:n.724G>C
ENST00000589528.1:c.285+7457G>C
NM_004924.4:c.627G>C	NP_004915.2:p.Leu209=
XM_005259281.3:c.627G>C	XP_005259338.1:p.Leu209=
XM_005259282.3:c.627G>C	XP_005259339.1:p.Leu209=
XM_006723406.1:c.627G>C	XP_006723469.1:p.Leu209=
NM_001322033.1:c.627G>C	NP_001308962.1:p.Leu209=
NM_004924.5:c.627G>C	NP_004915.2:p.Leu209=
XM_005259281.5:c.627G>C	XP_005259338.1:p.Leu209=
XM_006723406.3:c.627G>C	XP_006723469.1:p.Leu209=
XM_017027331.2:c.627G>C	XP_016882820.1:p.Leu209=
XR_001753937.1:n.123-6007C>G
NM_004924.6:c.627G>C MANE Select	NP_004915.2:p.Leu209=
NM_001322033.2:c.627G>C	NP_001308962.1:p.Leu209=