Canonical Allele Identifier: CA1442937

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 296059
• ClinVar RCV Id: RCV000289010 ; RCV000325221 ; RCV000378765
• dbSNP Id: rs143948837
• ExAC: 1:229568755 G / A
• gnomAD v2: 1-229568755-G-A
• gnomAD v3: 1-229433008-G-A
• gnomAD v4: 1-229433008-G-A
• MyVariant Identifiers: chr1:g.229568755G>A (hg19) ; chr1:g.229433008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229433008G>A , CM000663.2:g.229433008G>A	GRCh38
NC_000001.10:g.229568755G>A , CM000663.1:g.229568755G>A	GRCh37
NC_000001.9:g.227635378G>A	NCBI36
NG_006672.1:g.6089C>T , LRG_429:g.6089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.108C>T	ENSP00000355644.4:p.Ile36=
ENST00000684723.1:c.-6-128C>T	ENSP00000508084.1:n.-6-128C>T
ENST00000366683.3:c.108C>T	ENSP00000355644.3:p.Ile36=
ENST00000366684.7:c.108C>T MANE Select	ENSP00000355645.3:p.Ile36=
NM_001100.3:c.108C>T , LRG_429t1:c.108C>T	NP_001091.1:p.Ile36=
NM_001100.4:c.108C>T MANE Select	NP_001091.1:p.Ile36=