Canonical Allele Identifier: CA405696096

Gene: ACTN4

Linked Data

• ClinVar Variation Id: 427769
• ClinVar RCV Id: RCV000490712 ; RCV001755729
• dbSNP Id: rs1114167420
• MyVariant Identifiers: chr19:g.39200102T>C (hg19) ; chr19:g.38709462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38709462T>C , CM000681.2:g.38709462T>C	GRCh38
NC_000019.9:g.39200102T>C , CM000681.1:g.39200102T>C	GRCh37
NC_000019.8:g.43891942T>C	NCBI36
NG_007082.2:g.66776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.719T>C	ENSP00000398393.2:p.Met240Thr
ENST00000697712.1:c.578T>C	ENSP00000513410.1:p.Met193Thr
ENST00000252699.7:c.719T>C MANE Select	ENSP00000252699.2:p.Met240Thr
ENST00000424234.7:c.719T>C	ENSP00000411187.4:p.Met240Thr
ENST00000440400.2:c.719T>C	ENSP00000398393.2:p.Met240Thr
ENST00000252699.6:c.719T>C	ENSP00000252699.2:p.Met240Thr
ENST00000390009.7:c.163-5007T>C	ENSP00000439497.1:n.163-5007T>C
ENST00000424234.6:c.272+8753T>C	ENSP00000411187.3:n.272+8753T>C
ENST00000586538.1:c.122T>C	ENSP00000465176.1:p.Met41Thr
ENST00000588618.5:n.816T>C
ENST00000589528.1:c.285+8748T>C
NM_004924.4:c.719T>C	NP_004915.2:p.Met240Thr
XM_005259281.3:c.719T>C	XP_005259338.1:p.Met240Thr
XM_005259282.3:c.719T>C	XP_005259339.1:p.Met240Thr
XM_006723406.1:c.719T>C	XP_006723469.1:p.Met240Thr
NM_001322033.1:c.719T>C	NP_001308962.1:p.Met240Thr
NM_004924.5:c.719T>C	NP_004915.2:p.Met240Thr
XM_005259281.5:c.719T>C	XP_005259338.1:p.Met240Thr
XM_006723406.3:c.719T>C	XP_006723469.1:p.Met240Thr
XM_017027331.2:c.719T>C	XP_016882820.1:p.Met240Thr
XR_001753937.1:n.123-7298A>G
NM_004924.6:c.719T>C MANE Select	NP_004915.2:p.Met240Thr
NM_001322033.2:c.719T>C	NP_001308962.1:p.Met240Thr