Canonical Allele Identifier: CA9417323

Gene: ACTN4

Linked Data

• dbSNP Id: rs780428643
• ExAC: 19:39198750 T / C
• MyVariant Identifiers: chr19:g.39198750T>C (hg19) ; chr19:g.38708110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708110T>C , CM000681.2:g.38708110T>C	GRCh38
NC_000019.9:g.39198750T>C , CM000681.1:g.39198750T>C	GRCh37
NC_000019.8:g.43890590T>C	NCBI36
NG_007082.2:g.65424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.573-7T>C	ENSP00000398393.2:n.573-7T>C
ENST00000697712.1:c.432-7T>C	ENSP00000513410.1:n.432-7T>C
ENST00000252699.7:c.573-7T>C MANE Select	ENSP00000252699.2:n.573-7T>C
ENST00000424234.7:c.573-7T>C	ENSP00000411187.4:n.573-7T>C
ENST00000440400.2:c.573-7T>C	ENSP00000398393.2:n.573-7T>C
ENST00000252699.6:c.573-7T>C	ENSP00000252699.2:n.573-7T>C
ENST00000390009.7:c.163-6359T>C	ENSP00000439497.1:n.163-6359T>C
ENST00000424234.6:c.272+7401T>C	ENSP00000411187.3:n.272+7401T>C
ENST00000495553.1:n.479-7T>C
ENST00000588618.5:n.670-7T>C
ENST00000589528.1:c.285+7396T>C
NM_004924.4:c.573-7T>C	NP_004915.2:n.573-7T>C
XM_005259281.3:c.573-7T>C	XP_005259338.1:n.573-7T>C
XM_005259282.3:c.573-7T>C	XP_005259339.1:n.573-7T>C
XM_006723406.1:c.573-7T>C	XP_006723469.1:n.573-7T>C
NM_001322033.1:c.573-7T>C	NP_001308962.1:n.573-7T>C
NM_004924.5:c.573-7T>C	NP_004915.2:n.573-7T>C
XM_005259281.5:c.573-7T>C	XP_005259338.1:n.573-7T>C
XM_006723406.3:c.573-7T>C	XP_006723469.1:n.573-7T>C
XM_017027331.2:c.573-7T>C	XP_016882820.1:n.573-7T>C
XR_001753937.1:n.123-5946A>G
NM_004924.6:c.573-7T>C MANE Select	NP_004915.2:n.573-7T>C
NM_001322033.2:c.573-7T>C	NP_001308962.1:n.573-7T>C