Canonical Allele Identifier: CA1442856
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1403501
ClinVar RCV Id: RCV001925377
dbSNP Id: rs772957464
ExAC: 1:229568187 G / C
gnomAD v2: 1-229568187-G-C
gnomAD v3: 1-229432440-G-C
gnomAD v4: 1-229432440-G-C
MyVariant Identifiers: chr1:g.229568187G>C (hg19) chr1:g.229432440G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432440G>C , CM000663.2:g.229432440G>C GRCh38
NC_000001.10:g.229568187G>C , CM000663.1:g.229568187G>C GRCh37
NC_000001.9:g.227634810G>C NCBI36
NG_006672.1:g.6657C>G , LRG_429:g.6657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.455-9C>G ENSP00000355644.4:n.455-9C>G
ENST00000684723.1:c.320-9C>G ENSP00000508084.1:n.320-9C>G
ENST00000366683.3:c.455-9C>G ENSP00000355644.3:n.455-9C>G
ENST00000366684.7:c.455-9C>G MANE Select ENSP00000355645.3:n.455-9C>G
NM_001100.3:c.455-9C>G , LRG_429t1:c.455-9C>G NP_001091.1:n.455-9C>G
NM_001100.4:c.455-9C>G MANE Select NP_001091.1:n.455-9C>G
Search 100 bp 5'
Search 100 bp 3'