Canonical Allele Identifier: CA4147008

Gene: ACTB

Linked Data

• ClinVar Variation Id: 695454
• ClinVar RCV Id: RCV001495190 ; RCV003437445
• dbSNP Id: rs764266143
• ExAC: 7:5568357 G / A
• gnomAD v2: 7-5568357-G-A
• gnomAD v3: 7-5528726-G-A
• gnomAD v4: 7-5528726-G-A
• MyVariant Identifiers: chr7:g.5568357G>A (hg19) ; chr7:g.5528726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528726G>A , CM000669.2:g.5528726G>A	GRCh38
NC_000007.13:g.5568357G>A , CM000669.1:g.5568357G>A	GRCh37
NC_000007.12:g.5534883G>A	NCBI36
NG_007992.1:g.6876C>T , LRG_132:g.6876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.364-7C>T	ENSP00000407473.2:n.364-7C>T
ENST00000473257.3:c.235-7C>T	ENSP00000501773.1:n.235-7C>T
ENST00000477812.2:n.904C>T
ENST00000484841.6:n.559-7C>T
ENST00000493945.6:c.364-7C>T	ENSP00000494269.1:n.364-7C>T
ENST00000642480.2:c.364-7C>T	ENSP00000495995.2:n.364-7C>T
ENST00000645576.1:c.364-55C>T	ENSP00000496101.1:n.364-55C>T
ENST00000646664.1:c.364-7C>T MANE Select	ENSP00000494750.1:n.364-7C>T
ENST00000647275.1:c.-3-7C>T	ENSP00000494185.1:n.-3-7C>T
ENST00000674681.1:c.364-7C>T	ENSP00000502821.1:n.364-7C>T
ENST00000675515.1:c.364-7C>T	ENSP00000501862.1:n.364-7C>T
ENST00000676189.1:c.375-19C>T	ENSP00000502538.1:n.375-19C>T
ENST00000676319.1:c.87+845C>T	ENSP00000502193.1:n.87+845C>T
ENST00000676397.1:c.364-7C>T	ENSP00000502286.1:n.364-7C>T
ENST00000331789.9:c.364-7C>T	ENSP00000349960.4:n.364-7C>T
ENST00000425660.5:c.*27-7C>T	ENSP00000409264.1:n.*27-7C>T
ENST00000432588.5:c.364-7C>T	ENSP00000407473.1:n.364-7C>T
ENST00000462494.5:n.882C>T
ENST00000473257.1:n.82-7C>T
ENST00000477812.1:n.571-7C>T
ENST00000484841.5:n.519-7C>T
ENST00000493945.5:n.370-7C>T
NM_001101.3:c.364-7C>T , LRG_132t1:c.364-7C>T	NP_001092.1:n.364-7C>T
XM_006715764.1:c.-10C>T	XP_006715827.1:n.-10C>T
NM_001101.4:c.364-7C>T	NP_001092.1:n.364-7C>T
NM_001101.5:c.364-7C>T MANE Select	NP_001092.1:n.364-7C>T