Canonical Allele Identifier: CA4715153
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1671842
ClinVar RCV Id: RCV002208127
dbSNP Id: rs768179486
ExAC: 8:38002764 C / T
gnomAD v2: 8-38002764-C-T
gnomAD v3: 8-38145246-C-T
gnomAD v4: 8-38145246-C-T
MyVariant Identifiers: chr8:g.38002764C>T (hg19) chr8:g.38002764_38002765delinsTG (hg19) chr8:g.38145246C>T (hg38) chr8:g.38145246_38145247delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145246C>T , CM000670.2:g.38145246C>T GRCh38
NC_000008.10:g.38002764C>T , CM000670.1:g.38002764C>T GRCh37
NC_000008.9:g.38121921C>T NCBI36
NG_011827.1:g.10837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.720G>A MANE Select ENSP00000276449.3:p.Thr240=
ENST00000276449.8:c.720G>A ENSP00000276449.3:p.Thr240=
ENST00000520114.1:n.1854G>A
ENST00000522050.1:c.586+717G>A
NM_000349.2:c.720G>A NP_000340.2:p.Thr240=
XM_006716392.1:c.650+717G>A XP_006716455.1:n.650+717G>A
NM_000349.3:c.720G>A MANE Select NP_000340.2:p.Thr240=
Search 100 bp 5'
Search 100 bp 3'