Canonical Allele Identifier: CA1442838

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 1041733
• ClinVar RCV Id: RCV001345584 ; RCV001557498
• dbSNP Id: rs371799971
• ExAC: 1:229568013 G / C
• gnomAD v2: 1-229568013-G-C
• gnomAD v3: 1-229432266-G-C
• gnomAD v4: 1-229432266-G-C
• MyVariant Identifiers: chr1:g.229568013G>C (hg19) ; chr1:g.229432266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432266G>C , CM000663.2:g.229432266G>C	GRCh38
NC_000001.10:g.229568013G>C , CM000663.1:g.229568013G>C	GRCh37
NC_000001.9:g.227634636G>C	NCBI36
NG_006672.1:g.6831C>G , LRG_429:g.6831C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.616+4C>G	ENSP00000355644.4:n.616+4C>G
ENST00000684723.1:c.481+4C>G	ENSP00000508084.1:n.481+4C>G
ENST00000366683.3:c.479+141C>G	ENSP00000355644.3:n.479+141C>G
ENST00000366684.7:c.616+4C>G MANE Select	ENSP00000355645.3:n.616+4C>G
NM_001100.3:c.616+4C>G , LRG_429t1:c.616+4C>G	NP_001091.1:n.616+4C>G
NM_001100.4:c.616+4C>G MANE Select	NP_001091.1:n.616+4C>G