Canonical Allele Identifier: CA453639194

Gene: ACTB

Linked Data

• ClinVar Variation Id: 2040926
• ClinVar RCV Id: RCV002912786
• dbSNP Id: rs1256317969
• gnomAD v2: 7-5569020-C-A
• gnomAD v3: 7-5529389-C-A
• gnomAD v4: 7-5529389-C-A
• MyVariant Identifiers: chr7:g.5569020C>A (hg19) ; chr7:g.5529389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529389C>A , CM000669.2:g.5529389C>A	GRCh38
NC_000007.13:g.5569020C>A , CM000669.1:g.5569020C>A	GRCh37
NC_000007.12:g.5535546C>A	NCBI36
NG_007992.1:g.6213G>T , LRG_132:g.6213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.135G>T	ENSP00000399487.2:p.Val45=
ENST00000432588.6:c.135G>T	ENSP00000407473.2:p.Val45=
ENST00000473257.3:c.6G>T	ENSP00000501773.1:p.Val2=
ENST00000477812.2:n.342G>T
ENST00000484841.6:n.289G>T
ENST00000493945.6:c.135G>T	ENSP00000494269.1:p.Val45=
ENST00000642480.2:c.135G>T	ENSP00000495995.2:p.Val45=
ENST00000645025.1:n.218G>T
ENST00000645576.1:c.135G>T	ENSP00000496101.1:p.Val45=
ENST00000646664.1:c.135G>T MANE Select	ENSP00000494750.1:p.Val45=
ENST00000647275.1:c.-3-670G>T	ENSP00000494185.1:n.-3-670G>T
ENST00000674681.1:c.135G>T	ENSP00000502821.1:p.Val45=
ENST00000675515.1:c.135G>T	ENSP00000501862.1:p.Val45=
ENST00000676189.1:c.135G>T	ENSP00000502538.1:p.Val45=
ENST00000676319.1:c.87+182G>T	ENSP00000502193.1:n.87+182G>T
ENST00000676397.1:c.135G>T	ENSP00000502286.1:p.Val45=
ENST00000331789.9:c.135G>T	ENSP00000349960.4:p.Val45=
ENST00000414620.1:c.135G>T	ENSP00000401032.1:p.Val45=
ENST00000417101.1:c.144G>T	ENSP00000399487.1:p.Val48=
ENST00000425660.5:c.135G>T	ENSP00000409264.1:p.Val45=
ENST00000432588.5:c.135G>T	ENSP00000407473.1:p.Val45=
ENST00000443528.5:c.135G>T	ENSP00000393951.1:p.Val45=
ENST00000462494.5:n.219G>T
ENST00000473257.1:n.82-670G>T
ENST00000477812.1:n.342G>T
ENST00000480301.1:n.335G>T
ENST00000484841.5:n.290G>T
ENST00000493945.5:n.141G>T
NM_001101.3:c.135G>T , LRG_132t1:c.135G>T	NP_001092.1:p.Val45=
NM_001101.4:c.135G>T	NP_001092.1:p.Val45=
NM_001101.5:c.135G>T MANE Select	NP_001092.1:p.Val45=