Canonical Allele Identifier: CA1442802
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469599
ClinVar RCV Id: RCV001973058
dbSNP Id: rs549268481
ExAC: 1:229567738 C / T
gnomAD v2: 1-229567738-C-T
gnomAD v3: 1-229431991-C-T
gnomAD v4: 1-229431991-C-T
MyVariant Identifiers: chr1:g.229567738C>T (hg19) chr1:g.229431991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431991C>T , CM000663.2:g.229431991C>T GRCh38
NC_000001.10:g.229567738C>T , CM000663.1:g.229567738C>T GRCh37
NC_000001.9:g.227634361C>T NCBI36
NG_006672.1:g.7106G>A , LRG_429:g.7106G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808+3G>A ENSP00000355644.4:n.808+3G>A
ENST00000684723.1:c.673+3G>A ENSP00000508084.1:n.673+3G>A
ENST00000366683.3:c.480-129G>A ENSP00000355644.3:n.480-129G>A
ENST00000366684.7:c.808+3G>A MANE Select ENSP00000355645.3:n.808+3G>A
NM_001100.3:c.808+3G>A , LRG_429t1:c.808+3G>A NP_001091.1:n.808+3G>A
NM_001100.4:c.808+3G>A MANE Select NP_001091.1:n.808+3G>A
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