Canonical Allele Identifier: CA4715241
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 448532
ClinVar RCV Id: RCV000518572 RCV001653881 RCV001809464
dbSNP Id: rs2720050
ExAC: 8:38003787 T / C
gnomAD v2: 8-38003787-T-C
gnomAD v3: 8-38146269-T-C
gnomAD v4: 8-38146269-T-C
MyVariant Identifiers: chr8:g.38003787T>C (hg19) chr8:g.38146269T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146269T>C , CM000670.2:g.38146269T>C GRCh38
NC_000008.10:g.38003787T>C , CM000670.1:g.38003787T>C GRCh37
NC_000008.9:g.38122944T>C NCBI36
NG_011827.1:g.9814A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.465+20A>G MANE Select ENSP00000276449.3:n.465+20A>G
ENST00000276449.8:c.465+20A>G ENSP00000276449.3:n.465+20A>G
ENST00000520114.1:n.952+20A>G
ENST00000522050.1:c.401+20A>G
NM_000349.2:c.465+20A>G NP_000340.2:n.465+20A>G
XM_006716392.1:c.465+20A>G XP_006716455.1:n.465+20A>G
NM_000349.3:c.465+20A>G MANE Select NP_000340.2:n.465+20A>G
Search 100 bp 5'
Search 100 bp 3'