Canonical Allele Identifier: CA308133001

Gene: ACTN4

Linked Data

• dbSNP Id: rs1054630698
• gnomAD v2: 19-39200861-T-C
• gnomAD v3: 19-38710221-T-C
• gnomAD v4: 19-38710221-T-C
• MyVariant Identifiers: chr19:g.39200861T>C (hg19) ; chr19:g.38710221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38710221T>C , CM000681.2:g.38710221T>C	GRCh38
NC_000019.9:g.39200861T>C , CM000681.1:g.39200861T>C	GRCh37
NC_000019.8:g.43892701T>C	NCBI36
NG_007082.2:g.67535T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.733+745T>C	ENSP00000398393.2:n.733+745T>C
ENST00000697712.1:c.593-36T>C	ENSP00000513410.1:n.593-36T>C
ENST00000252699.7:c.734-36T>C MANE Select	ENSP00000252699.2:n.734-36T>C
ENST00000424234.7:c.733+745T>C	ENSP00000411187.4:n.733+745T>C
ENST00000440400.2:c.733+745T>C	ENSP00000398393.2:n.733+745T>C
ENST00000252699.6:c.734-36T>C	ENSP00000252699.2:n.734-36T>C
ENST00000390009.7:c.163-4248T>C	ENSP00000439497.1:n.163-4248T>C
ENST00000424234.6:c.272+9512T>C	ENSP00000411187.3:n.272+9512T>C
ENST00000586538.1:c.136+745T>C	ENSP00000465176.1:n.136+745T>C
ENST00000588618.5:n.831-36T>C
ENST00000589528.1:c.285+9507T>C
NM_004924.4:c.734-36T>C	NP_004915.2:n.734-36T>C
XM_005259281.3:c.734-36T>C	XP_005259338.1:n.734-36T>C
XM_005259282.3:c.733+745T>C	XP_005259339.1:n.733+745T>C
XM_006723406.1:c.733+745T>C	XP_006723469.1:n.733+745T>C
NM_001322033.1:c.733+745T>C	NP_001308962.1:n.733+745T>C
NM_004924.5:c.734-36T>C	NP_004915.2:n.734-36T>C
XM_005259281.5:c.734-36T>C	XP_005259338.1:n.734-36T>C
XM_006723406.3:c.733+745T>C	XP_006723469.1:n.733+745T>C
XM_017027331.2:c.734-36T>C	XP_016882820.1:n.734-36T>C
XR_001753937.1:n.123-8057A>G
NM_004924.6:c.734-36T>C MANE Select	NP_004915.2:n.734-36T>C
NM_001322033.2:c.733+745T>C	NP_001308962.1:n.733+745T>C