Canonical Allele Identifier: CA453521718

Gene: ACTB

Linked Data

• ClinVar Variation Id: 743300
• ClinVar RCV Id: RCV001492307
• dbSNP Id: rs1166509821
• gnomAD v2: 7-5568936-G-A
• gnomAD v4: 7-5529305-G-A
• MyVariant Identifiers: chr7:g.5568936G>A (hg19) ; chr7:g.5529305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529305G>A , CM000669.2:g.5529305G>A	GRCh38
NC_000007.13:g.5568936G>A , CM000669.1:g.5568936G>A	GRCh37
NC_000007.12:g.5535462G>A	NCBI36
NG_007992.1:g.6297C>T , LRG_132:g.6297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.219C>T	ENSP00000399487.2:p.His73=
ENST00000432588.6:c.219C>T	ENSP00000407473.2:p.His73=
ENST00000473257.3:c.90C>T	ENSP00000501773.1:p.His30=
ENST00000477812.2:n.426C>T
ENST00000484841.6:n.373C>T
ENST00000493945.6:c.219C>T	ENSP00000494269.1:p.His73=
ENST00000642480.2:c.219C>T	ENSP00000495995.2:p.His73=
ENST00000645025.1:n.302C>T
ENST00000645576.1:c.219C>T	ENSP00000496101.1:p.His73=
ENST00000646664.1:c.219C>T MANE Select	ENSP00000494750.1:p.His73=
ENST00000647275.1:c.-3-586C>T	ENSP00000494185.1:n.-3-586C>T
ENST00000674681.1:c.219C>T	ENSP00000502821.1:p.His73=
ENST00000675515.1:c.219C>T	ENSP00000501862.1:p.His73=
ENST00000676189.1:c.219C>T	ENSP00000502538.1:p.His73=
ENST00000676319.1:c.87+266C>T	ENSP00000502193.1:n.87+266C>T
ENST00000676397.1:c.219C>T	ENSP00000502286.1:p.His73=
ENST00000331789.9:c.219C>T	ENSP00000349960.4:p.His73=
ENST00000414620.1:c.219C>T	ENSP00000401032.1:p.His73=
ENST00000417101.1:c.228C>T	ENSP00000399487.1:p.His76=
ENST00000425660.5:c.219C>T	ENSP00000409264.1:p.His73=
ENST00000432588.5:c.219C>T	ENSP00000407473.1:p.His73=
ENST00000443528.5:c.219C>T	ENSP00000393951.1:p.His73=
ENST00000462494.5:n.303C>T
ENST00000473257.1:n.82-586C>T
ENST00000477812.1:n.426C>T
ENST00000480301.1:n.419C>T
ENST00000484841.5:n.374C>T
ENST00000493945.5:n.225C>T
NM_001101.3:c.219C>T , LRG_132t1:c.219C>T	NP_001092.1:p.His73=
NM_001101.4:c.219C>T	NP_001092.1:p.His73=
NM_001101.5:c.219C>T MANE Select	NP_001092.1:p.His73=