Canonical Allele Identifier: CA38814427
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs367624009
gnomAD v2: 1-229566823-T-C
gnomAD v3: 1-229431076-T-C
gnomAD v4: 1-229431076-T-C
MyVariant Identifiers: chr1:g.229566823T>C (hg19) chr1:g.229431076T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431076T>C , CM000663.2:g.229431076T>C GRCh38
NC_000001.10:g.229566823T>C , CM000663.1:g.229566823T>C GRCh37
NC_000001.9:g.227633446T>C NCBI36
NG_006672.1:g.8021A>G , LRG_429:g.8021A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*423A>G ENSP00000508084.1:n.*423A>G
Search 100 bp 5'
Search 100 bp 3'