Canonical Allele Identifier: CA2580062279
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1916899
ClinVar RCV Id: RCV002590780
gnomAD v4: 1-229431978-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431978G>C , CM000663.2:g.229431978G>C GRCh38
NC_000001.10:g.229567725G>C , CM000663.1:g.229567725G>C GRCh37
NC_000001.9:g.227634348G>C NCBI36
NG_006672.1:g.7119C>G , LRG_429:g.7119C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808+16C>G ENSP00000355644.4:n.808+16C>G
ENST00000684723.1:c.673+16C>G ENSP00000508084.1:n.673+16C>G
ENST00000366683.3:c.480-116C>G ENSP00000355644.3:n.480-116C>G
ENST00000366684.7:c.808+16C>G MANE Select ENSP00000355645.3:n.808+16C>G
NM_001100.3:c.808+16C>G , LRG_429t1:c.808+16C>G NP_001091.1:n.808+16C>G
NM_001100.4:c.808+16C>G MANE Select NP_001091.1:n.808+16C>G
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