Canonical Allele Identifier: CA10610295
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 296060
ClinVar RCV Id: RCV000290269 RCV000349853 RCV000384487 RCV001651342
dbSNP Id: rs605430
gnomAD v2: 1-229569803-A-G
gnomAD v3: 1-229434056-A-G
gnomAD v4: 1-229434056-A-G
MyVariant Identifiers: chr1:g.229569803A>G (hg19) chr1:g.229434056A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229434056A>G , CM000663.2:g.229434056A>G GRCh38
NC_000001.10:g.229569803A>G , CM000663.1:g.229569803A>G GRCh37
NC_000001.9:g.227636426A>G NCBI36
NG_006672.1:g.5041T>C , LRG_429:g.5041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.-65T>C ENSP00000355644.4:n.-65T>C
ENST00000684723.1:c.-59T>C ENSP00000508084.1:n.-59T>C
ENST00000366683.3:c.-65T>C ENSP00000355644.3:n.-65T>C
ENST00000366684.7:c.-65T>C MANE Select ENSP00000355645.3:n.-65T>C
NM_001100.3:c.-65T>C , LRG_429t1:c.-65T>C NP_001091.1:n.-65T>C
NM_001100.4:c.-65T>C MANE Select NP_001091.1:n.-65T>C
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