Canonical Allele Identifier: CA1442878

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 296057
• ClinVar RCV Id: RCV000292022 ; RCV000345366 ; RCV000407640 ; RCV003137910
• dbSNP Id: rs200976037
• ExAC: 1:229568300 C / A
• gnomAD v2: 1-229568300-C-A
• gnomAD v3: 1-229432553-C-A
• gnomAD v4: 1-229432553-C-A
• MyVariant Identifiers: chr1:g.229568300C>A (hg19) ; chr1:g.229432553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432553C>A , CM000663.2:g.229432553C>A	GRCh38
NC_000001.10:g.229568300C>A , CM000663.1:g.229568300C>A	GRCh37
NC_000001.9:g.227634923C>A	NCBI36
NG_006672.1:g.6544G>T , LRG_429:g.6544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.454+3G>T	ENSP00000355644.4:n.454+3G>T
ENST00000684723.1:c.319+3G>T	ENSP00000508084.1:n.319+3G>T
ENST00000366683.3:c.454+3G>T	ENSP00000355644.3:n.454+3G>T
ENST00000366684.7:c.454+3G>T MANE Select	ENSP00000355645.3:n.454+3G>T
NM_001100.3:c.454+3G>T , LRG_429t1:c.454+3G>T	NP_001091.1:n.454+3G>T
NM_001100.4:c.454+3G>T MANE Select	NP_001091.1:n.454+3G>T