Canonical Allele Identifier: CA1442748
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 746758
ClinVar RCV Id: RCV000923390
dbSNP Id: rs374599062
ExAC: 1:229567495 C / G
gnomAD v2: 1-229567495-C-G
gnomAD v3: 1-229431748-C-G
gnomAD v4: 1-229431748-C-G
MyVariant Identifiers: chr1:g.229567495C>G (hg19) chr1:g.229431748C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431748C>G , CM000663.2:g.229431748C>G GRCh38
NC_000001.10:g.229567495C>G , CM000663.1:g.229567495C>G GRCh37
NC_000001.9:g.227634118C>G NCBI36
NG_006672.1:g.7349G>C , LRG_429:g.7349G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.963G>C ENSP00000355644.4:p.Ala321=
ENST00000684723.1:c.828G>C ENSP00000508084.1:p.Ala276=
ENST00000366683.3:c.594G>C ENSP00000355644.3:p.Ala198=
ENST00000366684.7:c.963G>C MANE Select ENSP00000355645.3:p.Ala321=
NM_001100.3:c.963G>C , LRG_429t1:c.963G>C NP_001091.1:p.Ala321=
NM_001100.4:c.963G>C MANE Select NP_001091.1:p.Ala321=
Search 100 bp 5'
Search 100 bp 3'