Canonical Allele Identifier: CA1442703
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464116
ClinVar RCV Id: RCV000546819 RCV001096304 RCV001096305
dbSNP Id: rs142311664
ExAC: 1:229567255 T / C
gnomAD v2: 1-229567255-T-C
gnomAD v3: 1-229431508-T-C
gnomAD v4: 1-229431508-T-C
MyVariant Identifiers: chr1:g.229567255T>C (hg19) chr1:g.229431508T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431508T>C , CM000663.2:g.229431508T>C GRCh38
NC_000001.10:g.229567255T>C , CM000663.1:g.229567255T>C GRCh37
NC_000001.9:g.227633878T>C NCBI36
NG_006672.1:g.7589A>G , LRG_429:g.7589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1047A>G ENSP00000355644.4:p.Lys349=
ENST00000684723.1:c.990A>G ENSP00000508084.1:p.Lys330=
ENST00000366683.3:c.756A>G ENSP00000355644.3:p.Lys252=
ENST00000366684.7:c.1125A>G MANE Select ENSP00000355645.3:p.Lys375=
NM_001100.3:c.1125A>G , LRG_429t1:c.1125A>G NP_001091.1:p.Lys375=
NM_001100.4:c.1125A>G MANE Select NP_001091.1:p.Lys375=
Search 100 bp 5'
Search 100 bp 3'