Canonical Allele Identifier: CA657399529

Gene: ACTN4

Linked Data

• dbSNP Id: rs1033379124
• gnomAD v3: 19-38710185-G-C
• gnomAD v4: 19-38710185-G-C
• COSMIC: COSN19624214 ; COSN20281284

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710185G>C , CM000681.2:g.38710185G>C	GRCh38
NC_000019.9:g.39200825G>C , CM000681.1:g.39200825G>C	GRCh37
NC_000019.8:g.43892665G>C	NCBI36
NG_007082.2:g.67499G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.733+709G>C	ENSP00000398393.2:n.733+709G>C
ENST00000697712.1:c.593-72G>C	ENSP00000513410.1:n.593-72G>C
ENST00000252699.7:c.734-72G>C MANE Select	ENSP00000252699.2:n.734-72G>C
ENST00000424234.7:c.733+709G>C	ENSP00000411187.4:n.733+709G>C
ENST00000440400.2:c.733+709G>C	ENSP00000398393.2:n.733+709G>C
ENST00000252699.6:c.734-72G>C	ENSP00000252699.2:n.734-72G>C
ENST00000390009.7:c.163-4284G>C	ENSP00000439497.1:n.163-4284G>C
ENST00000424234.6:c.272+9476G>C	ENSP00000411187.3:n.272+9476G>C
ENST00000586538.1:c.136+709G>C	ENSP00000465176.1:n.136+709G>C
ENST00000588618.5:n.831-72G>C
ENST00000589528.1:c.285+9471G>C
NM_004924.4:c.734-72G>C	NP_004915.2:n.734-72G>C
XM_005259281.3:c.734-72G>C	XP_005259338.1:n.734-72G>C
XM_005259282.3:c.733+709G>C	XP_005259339.1:n.733+709G>C
XM_006723406.1:c.733+709G>C	XP_006723469.1:n.733+709G>C
NM_001322033.1:c.733+709G>C	NP_001308962.1:n.733+709G>C
NM_004924.5:c.734-72G>C	NP_004915.2:n.734-72G>C
XM_005259281.5:c.734-72G>C	XP_005259338.1:n.734-72G>C
XM_006723406.3:c.733+709G>C	XP_006723469.1:n.733+709G>C
XM_017027331.2:c.734-72G>C	XP_016882820.1:n.734-72G>C
XR_001753937.1:n.123-8021C>G
NM_004924.6:c.734-72G>C MANE Select	NP_004915.2:n.734-72G>C
NM_001322033.2:c.733+709G>C	NP_001308962.1:n.733+709G>C