Canonical Allele Identifier: CA460374996

Gene: STAR

Linked Data

• ClinVar Variation Id: 1142481
• ClinVar RCV Id: RCV001480288 ; RCV002495715
• dbSNP Id: rs768179486
• gnomAD v2: 8-38002764-C-G
• MyVariant Identifiers: chr8:g.38002764C>G (hg19) ; chr8:g.38002764_38002765delinsGG (hg19) ; chr8:g.38145246_38145247delinsGG (hg38)

Genomic Alleles

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

Transcript Alleles

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