Canonical Allele Identifier: CA345144374
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659933817
gnomAD v3: 1-229431549-G-C
gnomAD v4: 1-229431549-G-C
MyVariant Identifiers: chr1:g.229567296G>C (hg19) chr1:g.229431549G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431549G>C , CM000663.2:g.229431549G>C GRCh38
NC_000001.10:g.229567296G>C , CM000663.1:g.229567296G>C GRCh37
NC_000001.9:g.227633919G>C NCBI36
NG_006672.1:g.7548C>G , LRG_429:g.7548C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1006C>G ENSP00000355644.4:p.Gln336Glu
ENST00000684723.1:c.949C>G ENSP00000508084.1:p.Gln317Glu
ENST00000366683.3:c.715C>G ENSP00000355644.3:p.Gln239Glu
ENST00000366684.7:c.1084C>G MANE Select ENSP00000355645.3:p.Gln362Glu
NM_001100.3:c.1084C>G , LRG_429t1:c.1084C>G NP_001091.1:p.Gln362Glu
NM_001100.4:c.1084C>G MANE Select NP_001091.1:p.Gln362Glu
Search 100 bp 5'
Search 100 bp 3'