Canonical Allele Identifier: CA1442818
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351681
ClinVar RCV Id: RCV002044909
dbSNP Id: rs148514635
ExAC: 1:229567927 G / T
gnomAD v2: 1-229567927-G-T
gnomAD v3: 1-229432180-G-T
gnomAD v4: 1-229432180-G-T
MyVariant Identifiers: chr1:g.229567927G>T (hg19) chr1:g.229432180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432180G>T , CM000663.2:g.229432180G>T GRCh38
NC_000001.10:g.229567927G>T , CM000663.1:g.229567927G>T GRCh37
NC_000001.9:g.227634550G>T NCBI36
NG_006672.1:g.6917C>A , LRG_429:g.6917C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.622C>A ENSP00000355644.4:p.Arg208Ser
ENST00000684723.1:c.487C>A ENSP00000508084.1:p.Arg163Ser
ENST00000366683.3:c.479+227C>A ENSP00000355644.3:n.479+227C>A
ENST00000366684.7:c.622C>A MANE Select ENSP00000355645.3:p.Arg208Ser
NM_001100.3:c.622C>A , LRG_429t1:c.622C>A NP_001091.1:p.Arg208Ser
NM_001100.4:c.622C>A MANE Select NP_001091.1:p.Arg208Ser
Search 100 bp 5'
Search 100 bp 3'