Canonical Allele Identifier: CA4715357
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1980030
ClinVar RCV Id: RCV002756319
dbSNP Id: rs138786388
ExAC: 8:38006217 C / A
gnomAD v2: 8-38006217-C-A
gnomAD v4: 8-38148699-C-A
MyVariant Identifiers: chr8:g.38006217C>A (hg19) chr8:g.38148699C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.120G>T MANE Select ENSP00000276449.3:p.Leu40=
ENST00000276449.8:c.120G>T ENSP00000276449.3:p.Leu40=
ENST00000520114.1:n.294G>T
ENST00000521236.1:c.-159G>T ENSP00000430030.1:n.-159G>T
ENST00000522050.1:c.56G>T
NM_000349.2:c.120G>T NP_000340.2:p.Leu40=
XM_006716392.1:c.120G>T XP_006716455.1:p.Leu40=
NM_000349.3:c.120G>T MANE Select NP_000340.2:p.Leu40=
Search 100 bp 5'
Search 100 bp 3'