Canonical Allele Identifier: CA147045

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 93546
• ClinVar RCV Id: RCV000079462 ; RCV000317953 ; RCV000263026 ; RCV000353173 ; RCV001650906
• dbSNP Id: rs41271481
• ExAC: 1:229568637 C / G
• gnomAD v2: 1-229568637-C-G
• gnomAD v3: 1-229432890-C-G
• gnomAD v4: 1-229432890-C-G
• MyVariant Identifiers: chr1:g.229568637C>G (hg19) ; chr1:g.229432890C>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432890C>G , CM000663.2:g.229432890C>G	GRCh38
NC_000001.10:g.229568637C>G , CM000663.1:g.229568637C>G	GRCh37
NC_000001.9:g.227635260C>G	NCBI36
NG_006672.1:g.6207G>C , LRG_429:g.6207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.130-10G>C	ENSP00000355644.4:n.130-10G>C
ENST00000684723.1:c.-6-10G>C	ENSP00000508084.1:n.-6-10G>C
ENST00000366683.3:c.130-10G>C	ENSP00000355644.3:n.130-10G>C
ENST00000366684.7:c.130-10G>C MANE Select	ENSP00000355645.3:n.130-10G>C
NM_001100.3:c.130-10G>C , LRG_429t1:c.130-10G>C	NP_001091.1:n.130-10G>C
NM_001100.4:c.130-10G>C MANE Select	NP_001091.1:n.130-10G>C