Canonical Allele Identifier: CA1442777
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs777628810
ExAC: 1:229567670 C / A
gnomAD v2: 1-229567670-C-A
gnomAD v3: 1-229431923-C-A
gnomAD v4: 1-229431923-C-A
MyVariant Identifiers: chr1:g.229567670C>A (hg19) chr1:g.229431923C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431923C>A , CM000663.2:g.229431923C>A GRCh38
NC_000001.10:g.229567670C>A , CM000663.1:g.229567670C>A GRCh37
NC_000001.9:g.227634293C>A NCBI36
NG_006672.1:g.7174G>T , LRG_429:g.7174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-21G>T ENSP00000355644.4:n.809-21G>T
ENST00000684723.1:c.674-21G>T ENSP00000508084.1:n.674-21G>T
ENST00000366683.3:c.480-61G>T ENSP00000355644.3:n.480-61G>T
ENST00000366684.7:c.809-21G>T MANE Select ENSP00000355645.3:n.809-21G>T
NM_001100.3:c.809-21G>T , LRG_429t1:c.809-21G>T NP_001091.1:n.809-21G>T
NM_001100.4:c.809-21G>T MANE Select NP_001091.1:n.809-21G>T
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