Canonical Allele Identifier: CA460374951

Gene: STAR

Linked Data

• ClinVar Variation Id: 765428
• ClinVar RCV Id: RCV001273606 ; RCV000943849
• dbSNP Id: rs1358166887
• gnomAD v2: 8-38001857-C-T
• gnomAD v3: 8-38144339-C-T
• gnomAD v4: 8-38144339-C-T
• MyVariant Identifiers: chr8:g.38001857C>T (hg19) ; chr8:g.38144339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144339C>T , CM000670.2:g.38144339C>T	GRCh38
NC_000008.10:g.38001857C>T , CM000670.1:g.38001857C>T	GRCh37
NC_000008.9:g.38121014C>T	NCBI36
NG_011827.1:g.11744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.792G>A MANE Select	ENSP00000276449.3:p.Gln264=
ENST00000276449.8:c.792G>A	ENSP00000276449.3:p.Gln264=
ENST00000520114.1:n.2761G>A
ENST00000522050.1:c.634G>A
NM_000349.2:c.792G>A	NP_000340.2:p.Gln264=
XM_006716392.1:c.698G>A	XP_006716455.1:p.Arg233Lys
NM_000349.3:c.792G>A MANE Select	NP_000340.2:p.Gln264=