Canonical Allele Identifier: CA4715356

Gene: STAR

Linked Data

• ClinVar Variation Id: 362850
• ClinVar RCV Id: RCV000300389 ; RCV000891942 ; RCV001821104 ; RCV003912553
• dbSNP Id: rs138786388
• ExAC: 8:38006217 C / T
• gnomAD v2: 8-38006217-C-T
• gnomAD v3: 8-38148699-C-T
• gnomAD v4: 8-38148699-C-T
• MyVariant Identifiers: chr8:g.38006217C>T (hg19) ; chr8:g.38148699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148699C>T , CM000670.2:g.38148699C>T	GRCh38
NC_000008.10:g.38006217C>T , CM000670.1:g.38006217C>T	GRCh37
NC_000008.9:g.38125374C>T	NCBI36
NG_011827.1:g.7384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.120G>A MANE Select	ENSP00000276449.3:p.Leu40=
ENST00000276449.8:c.120G>A	ENSP00000276449.3:p.Leu40=
ENST00000520114.1:n.294G>A
ENST00000521236.1:c.-159G>A	ENSP00000430030.1:n.-159G>A
ENST00000522050.1:c.56G>A
NM_000349.2:c.120G>A	NP_000340.2:p.Leu40=
XM_006716392.1:c.120G>A	XP_006716455.1:p.Leu40=
NM_000349.3:c.120G>A MANE Select	NP_000340.2:p.Leu40=