Canonical Allele Identifier: CA4715123
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2593599
ClinVar RCV Id: RCV003342241
dbSNP Id: rs144981691
ExAC: 8:38001828 C / T
gnomAD v2: 8-38001828-C-T
gnomAD v3: 8-38144310-C-T
gnomAD v4: 8-38144310-C-T
MyVariant Identifiers: chr8:g.38001828C>T (hg19) chr8:g.38144310C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144310C>T , CM000670.2:g.38144310C>T GRCh38
NC_000008.10:g.38001828C>T , CM000670.1:g.38001828C>T GRCh37
NC_000008.9:g.38120985C>T NCBI36
NG_011827.1:g.11773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.821G>A MANE Select ENSP00000276449.3:p.Arg274His
ENST00000276449.8:c.821G>A ENSP00000276449.3:p.Arg274His
ENST00000520114.1:n.2790G>A
ENST00000522050.1:c.663G>A
NM_000349.2:c.821G>A NP_000340.2:p.Arg274His
XM_006716392.1:c.727G>A XP_006716455.1:p.Ala243Thr
NM_000349.3:c.821G>A MANE Select NP_000340.2:p.Arg274His
Search 100 bp 5'
Search 100 bp 3'