Canonical Allele Identifier: CA633067273

Gene: ACTN4

Linked Data

• dbSNP Id: rs1386787017
• gnomAD v2: 19-39220077-C-T
• gnomAD v4: 19-38729437-C-T
• MyVariant Identifiers: chr19:g.39220077C>T (hg19) ; chr19:g.38729437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38729437C>T , CM000681.2:g.38729437C>T	GRCh38
NC_000019.9:g.39220077C>T , CM000681.1:g.39220077C>T	GRCh37
NC_000019.8:g.43911917C>T	NCBI36
NG_007082.2:g.86751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440400.3:c.*5C>T	ENSP00000398393.2:n.*5C>T
ENST00000697712.1:c.2600C>T	ENSP00000513410.1:n.2600C>T
ENST00000252699.7:c.*5C>T MANE Select	ENSP00000252699.2:n.*5C>T
ENST00000424234.7:c.*5C>T	ENSP00000411187.4:n.*5C>T
ENST00000440400.2:c.*5C>T	ENSP00000398393.2:n.*5C>T
ENST00000252699.6:c.*5C>T	ENSP00000252699.2:n.*5C>T
ENST00000390009.7:c.*5C>T	ENSP00000439497.1:n.*5C>T
ENST00000440400.1:c.1034C>T	ENSP00000398393.1:n.1034C>T
ENST00000497637.5:n.494C>T
ENST00000589528.1:c.286-552C>T
NM_004924.4:c.*5C>T	NP_004915.2:n.*5C>T
XM_005259281.3:c.*5C>T	XP_005259338.1:n.*5C>T
XM_005259282.3:c.*5C>T	XP_005259339.1:n.*5C>T
XM_006723406.1:c.*5C>T	XP_006723469.1:n.*5C>T
NM_001322033.1:c.*5C>T	NP_001308962.1:n.*5C>T
NM_004924.5:c.*5C>T	NP_004915.2:n.*5C>T
XM_005259281.5:c.*5C>T	XP_005259338.1:n.*5C>T
XM_006723406.3:c.*5C>T	XP_006723469.1:n.*5C>T
XM_017027331.2:c.*5C>T	XP_016882820.1:n.*5C>T
NM_004924.6:c.*5C>T MANE Select	NP_004915.2:n.*5C>T
NM_001322033.2:c.*5C>T	NP_001308962.1:n.*5C>T