Canonical Allele Identifier: CA572821979

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1062959
• ClinVar RCV Id: RCV001372740
• dbSNP Id: rs878963559
• gnomAD v2: 7-5569163-T-C
• gnomAD v3: 7-5529532-T-C
• gnomAD v4: 7-5529532-T-C
• MyVariant Identifiers: chr7:g.5569163T>C (hg19) ; chr7:g.5529532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529532T>C , CM000669.2:g.5529532T>C	GRCh38
NC_000007.13:g.5569163T>C , CM000669.1:g.5569163T>C	GRCh37
NC_000007.12:g.5535689T>C	NCBI36
NG_007992.1:g.6070A>G , LRG_132:g.6070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.123+3A>G	ENSP00000399487.2:n.123+3A>G
ENST00000432588.6:c.123+3A>G	ENSP00000407473.2:n.123+3A>G
ENST00000473257.3:c.-6-132A>G	ENSP00000501773.1:n.-6-132A>G
ENST00000477812.2:n.199A>G
ENST00000484841.6:n.277+3A>G
ENST00000493945.6:c.123+3A>G	ENSP00000494269.1:n.123+3A>G
ENST00000642480.2:c.123+3A>G	ENSP00000495995.2:n.123+3A>G
ENST00000645025.1:n.206+3A>G
ENST00000645576.1:c.123+3A>G	ENSP00000496101.1:n.123+3A>G
ENST00000646664.1:c.123+3A>G MANE Select	ENSP00000494750.1:n.123+3A>G
ENST00000647275.1:c.-3-813A>G	ENSP00000494185.1:n.-3-813A>G
ENST00000674681.1:c.123+3A>G	ENSP00000502821.1:n.123+3A>G
ENST00000675515.1:c.123+3A>G	ENSP00000501862.1:n.123+3A>G
ENST00000676189.1:c.123+3A>G	ENSP00000502538.1:n.123+3A>G
ENST00000676319.1:c.87+39A>G	ENSP00000502193.1:n.87+39A>G
ENST00000676397.1:c.123+3A>G	ENSP00000502286.1:n.123+3A>G
ENST00000331789.9:c.123+3A>G	ENSP00000349960.4:n.123+3A>G
ENST00000414620.1:c.123+3A>G	ENSP00000401032.1:n.123+3A>G
ENST00000417101.1:c.132+3A>G	ENSP00000399487.1:n.132+3A>G
ENST00000425660.5:c.123+3A>G	ENSP00000409264.1:n.123+3A>G
ENST00000432588.5:c.123+3A>G	ENSP00000407473.1:n.123+3A>G
ENST00000443528.5:c.123+3A>G	ENSP00000393951.1:n.123+3A>G
ENST00000462494.5:n.207+3A>G
ENST00000473257.1:n.82-813A>G
ENST00000477812.1:n.199A>G
ENST00000480301.1:n.192A>G
ENST00000484841.5:n.278+3A>G
ENST00000493945.5:n.129+3A>G
NM_001101.3:c.123+3A>G , LRG_132t1:c.123+3A>G	NP_001092.1:n.123+3A>G
NM_001101.4:c.123+3A>G	NP_001092.1:n.123+3A>G
NM_001101.5:c.123+3A>G MANE Select	NP_001092.1:n.123+3A>G