Canonical Allele Identifier: CA4147136

Gene: ACTB

Linked Data

• ClinVar Variation Id: 2168136
• ClinVar RCV Id: RCV003086799
• dbSNP Id: rs770456262
• ExAC: 7:5569017 G / A
• gnomAD v2: 7-5569017-G-A
• gnomAD v3: 7-5529386-G-A
• gnomAD v4: 7-5529386-G-A
• MyVariant Identifiers: chr7:g.5569017G>A (hg19) ; chr7:g.5529386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529386G>A , CM000669.2:g.5529386G>A	GRCh38
NC_000007.13:g.5569017G>A , CM000669.1:g.5569017G>A	GRCh37
NC_000007.12:g.5535543G>A	NCBI36
NG_007992.1:g.6216C>T , LRG_132:g.6216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.138C>T	ENSP00000399487.2:p.Gly46=
ENST00000432588.6:c.138C>T	ENSP00000407473.2:p.Gly46=
ENST00000473257.3:c.9C>T	ENSP00000501773.1:p.Gly3=
ENST00000477812.2:n.345C>T
ENST00000484841.6:n.292C>T
ENST00000493945.6:c.138C>T	ENSP00000494269.1:p.Gly46=
ENST00000642480.2:c.138C>T	ENSP00000495995.2:p.Gly46=
ENST00000645025.1:n.221C>T
ENST00000645576.1:c.138C>T	ENSP00000496101.1:p.Gly46=
ENST00000646664.1:c.138C>T MANE Select	ENSP00000494750.1:p.Gly46=
ENST00000647275.1:c.-3-667C>T	ENSP00000494185.1:n.-3-667C>T
ENST00000674681.1:c.138C>T	ENSP00000502821.1:p.Gly46=
ENST00000675515.1:c.138C>T	ENSP00000501862.1:p.Gly46=
ENST00000676189.1:c.138C>T	ENSP00000502538.1:p.Gly46=
ENST00000676319.1:c.87+185C>T	ENSP00000502193.1:n.87+185C>T
ENST00000676397.1:c.138C>T	ENSP00000502286.1:p.Gly46=
ENST00000331789.9:c.138C>T	ENSP00000349960.4:p.Gly46=
ENST00000414620.1:c.138C>T	ENSP00000401032.1:p.Gly46=
ENST00000417101.1:c.147C>T	ENSP00000399487.1:p.Gly49=
ENST00000425660.5:c.138C>T	ENSP00000409264.1:p.Gly46=
ENST00000432588.5:c.138C>T	ENSP00000407473.1:p.Gly46=
ENST00000443528.5:c.138C>T	ENSP00000393951.1:p.Gly46=
ENST00000462494.5:n.222C>T
ENST00000473257.1:n.82-667C>T
ENST00000477812.1:n.345C>T
ENST00000480301.1:n.338C>T
ENST00000484841.5:n.293C>T
ENST00000493945.5:n.144C>T
NM_001101.3:c.138C>T , LRG_132t1:c.138C>T	NP_001092.1:p.Gly46=
NM_001101.4:c.138C>T	NP_001092.1:p.Gly46=
NM_001101.5:c.138C>T MANE Select	NP_001092.1:p.Gly46=