Canonical Allele Identifier: CA1442825
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1211344
ClinVar RCV Id: RCV001583153
dbSNP Id: rs201769848
ExAC: 1:229567960 C / G
gnomAD v2: 1-229567960-C-G
gnomAD v3: 1-229432213-C-G
gnomAD v4: 1-229432213-C-G
MyVariant Identifiers: chr1:g.229567960C>G (hg19) chr1:g.229432213C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432213C>G , CM000663.2:g.229432213C>G GRCh38
NC_000001.10:g.229567960C>G , CM000663.1:g.229567960C>G GRCh37
NC_000001.9:g.227634583C>G NCBI36
NG_006672.1:g.6884G>C , LRG_429:g.6884G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.617-28G>C ENSP00000355644.4:n.617-28G>C
ENST00000684723.1:c.482-28G>C ENSP00000508084.1:n.482-28G>C
ENST00000366683.3:c.479+194G>C ENSP00000355644.3:n.479+194G>C
ENST00000366684.7:c.617-28G>C MANE Select ENSP00000355645.3:n.617-28G>C
NM_001100.3:c.617-28G>C , LRG_429t1:c.617-28G>C NP_001091.1:n.617-28G>C
NM_001100.4:c.617-28G>C MANE Select NP_001091.1:n.617-28G>C
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