Canonical Allele Identifier: CA16618480

Gene: ACTB

Linked Data

• ClinVar Variation Id: 418804
• ClinVar RCV Id: RCV000482867 ; RCV001533049 ; RCV001731706
• dbSNP Id: rs1064793444
• MyVariant Identifiers: chr7:g.5568085C>T (hg19) ; chr7:g.5528454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528454C>T , CM000669.2:g.5528454C>T	GRCh38
NC_000007.13:g.5568085C>T , CM000669.1:g.5568085C>T	GRCh37
NC_000007.12:g.5534611C>T	NCBI36
NG_007992.1:g.7148G>A , LRG_132:g.7148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.629G>A	ENSP00000407473.2:p.Arg210His
ENST00000473257.3:c.500G>A	ENSP00000501773.1:p.Arg167His
ENST00000477812.2:n.1176G>A
ENST00000493945.6:c.629G>A	ENSP00000494269.1:p.Arg210His
ENST00000642480.2:c.629G>A	ENSP00000495995.2:p.Arg210His
ENST00000645576.1:c.581G>A	ENSP00000496101.1:p.Arg194His
ENST00000646664.1:c.629G>A MANE Select	ENSP00000494750.1:p.Arg210His
ENST00000647275.1:c.263G>A	ENSP00000494185.1:p.Arg88His
ENST00000674681.1:c.629G>A	ENSP00000502821.1:p.Arg210His
ENST00000675515.1:c.629G>A	ENSP00000501862.1:p.Arg210His
ENST00000676189.1:c.*172G>A	ENSP00000502538.1:n.*172G>A
ENST00000676319.1:c.88-671G>A	ENSP00000502193.1:n.88-671G>A
ENST00000676397.1:c.629G>A	ENSP00000502286.1:p.Arg210His
ENST00000331789.9:c.629G>A	ENSP00000349960.4:p.Arg210His
ENST00000425660.5:c.*292G>A	ENSP00000409264.1:n.*292G>A
ENST00000462494.5:n.1154G>A
ENST00000473257.1:n.347G>A
ENST00000484841.5:n.784G>A
ENST00000493945.5:n.635G>A
NM_001101.3:c.629G>A , LRG_132t1:c.629G>A	NP_001092.1:p.Arg210His
XM_006715764.1:c.263G>A	XP_006715827.1:p.Arg88His
NM_001101.4:c.629G>A	NP_001092.1:p.Arg210His
NM_001101.5:c.629G>A MANE Select	NP_001092.1:p.Arg210His