Canonical Allele Identifier: CA4147017

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1182633
• ClinVar RCV Id: RCV001540309
• dbSNP Id: rs200855679
• ExAC: 7:5568381 G / A
• gnomAD v2: 7-5568381-G-A
• gnomAD v3: 7-5528750-G-A
• gnomAD v4: 7-5528750-G-A
• MyVariant Identifiers: chr7:g.5568381G>A (hg19) ; chr7:g.5528750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528750G>A , CM000669.2:g.5528750G>A	GRCh38
NC_000007.13:g.5568381G>A , CM000669.1:g.5568381G>A	GRCh37
NC_000007.12:g.5534907G>A	NCBI36
NG_007992.1:g.6852C>T , LRG_132:g.6852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.364-31C>T	ENSP00000407473.2:n.364-31C>T
ENST00000473257.3:c.235-31C>T	ENSP00000501773.1:n.235-31C>T
ENST00000477812.2:n.880C>T
ENST00000484841.6:n.559-31C>T
ENST00000493945.6:c.364-31C>T	ENSP00000494269.1:n.364-31C>T
ENST00000642480.2:c.364-31C>T	ENSP00000495995.2:n.364-31C>T
ENST00000645576.1:c.364-79C>T	ENSP00000496101.1:n.364-79C>T
ENST00000646664.1:c.364-31C>T MANE Select	ENSP00000494750.1:n.364-31C>T
ENST00000647275.1:c.-3-31C>T	ENSP00000494185.1:n.-3-31C>T
ENST00000674681.1:c.364-31C>T	ENSP00000502821.1:n.364-31C>T
ENST00000675515.1:c.364-31C>T	ENSP00000501862.1:n.364-31C>T
ENST00000676189.1:c.375-43C>T	ENSP00000502538.1:n.375-43C>T
ENST00000676319.1:c.87+821C>T	ENSP00000502193.1:n.87+821C>T
ENST00000676397.1:c.364-31C>T	ENSP00000502286.1:n.364-31C>T
ENST00000331789.9:c.364-31C>T	ENSP00000349960.4:n.364-31C>T
ENST00000425660.5:c.*27-31C>T	ENSP00000409264.1:n.*27-31C>T
ENST00000432588.5:c.364-31C>T	ENSP00000407473.1:n.364-31C>T
ENST00000462494.5:n.858C>T
ENST00000473257.1:n.82-31C>T
ENST00000477812.1:n.571-31C>T
ENST00000484841.5:n.519-31C>T
ENST00000493945.5:n.370-31C>T
NM_001101.3:c.364-31C>T , LRG_132t1:c.364-31C>T	NP_001092.1:n.364-31C>T
XM_006715764.1:c.-34C>T	XP_006715827.1:n.-34C>T
NM_001101.4:c.364-31C>T	NP_001092.1:n.364-31C>T
NM_001101.5:c.364-31C>T MANE Select	NP_001092.1:n.364-31C>T