Canonical Allele Identifier: CA4146999

Gene: ACTB

Linked Data

• ClinVar Variation Id: 387382
• ClinVar RCV Id: RCV000418973 ; RCV001088667
• dbSNP Id: rs141472083
• ExAC: 7:5568240 C / T
• gnomAD v2: 7-5568240-C-T
• gnomAD v3: 7-5528609-C-T
• gnomAD v4: 7-5528609-C-T
• MyVariant Identifiers: chr7:g.5568240C>T (hg19) ; chr7:g.5528609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528609C>T , CM000669.2:g.5528609C>T	GRCh38
NC_000007.13:g.5568240C>T , CM000669.1:g.5568240C>T	GRCh37
NC_000007.12:g.5534766C>T	NCBI36
NG_007992.1:g.6993G>A , LRG_132:g.6993G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.474G>A	ENSP00000407473.2:p.Gly158=
ENST00000473257.3:c.345G>A	ENSP00000501773.1:p.Gly115=
ENST00000477812.2:n.1021G>A
ENST00000493945.6:c.474G>A	ENSP00000494269.1:p.Gly158=
ENST00000642480.2:c.474G>A	ENSP00000495995.2:p.Gly158=
ENST00000645576.1:c.426G>A	ENSP00000496101.1:p.Gly142=
ENST00000646664.1:c.474G>A MANE Select	ENSP00000494750.1:p.Gly158=
ENST00000647275.1:c.108G>A	ENSP00000494185.1:p.Gly36=
ENST00000674681.1:c.474G>A	ENSP00000502821.1:p.Gly158=
ENST00000675515.1:c.474G>A	ENSP00000501862.1:p.Gly158=
ENST00000676189.1:c.*17G>A	ENSP00000502538.1:n.*17G>A
ENST00000676319.1:c.88-826G>A	ENSP00000502193.1:n.88-826G>A
ENST00000676397.1:c.474G>A	ENSP00000502286.1:p.Gly158=
ENST00000331789.9:c.474G>A	ENSP00000349960.4:p.Gly158=
ENST00000425660.5:c.*137G>A	ENSP00000409264.1:n.*137G>A
ENST00000432588.5:c.474G>A	ENSP00000407473.1:p.Gly158=
ENST00000462494.5:n.999G>A
ENST00000473257.1:n.192G>A
ENST00000477812.1:n.681G>A
ENST00000484841.5:n.629G>A
ENST00000493945.5:n.480G>A
NM_001101.3:c.474G>A , LRG_132t1:c.474G>A	NP_001092.1:p.Gly158=
XM_006715764.1:c.108G>A	XP_006715827.1:p.Gly36=
NM_001101.4:c.474G>A	NP_001092.1:p.Gly158=
NM_001101.5:c.474G>A MANE Select	NP_001092.1:p.Gly158=