Canonical Allele Identifier: CA10630670

Gene: HRURF HR

Linked Data

• ClinVar Variation Id: 362537
• ClinVar RCV Id: RCV000273348 ; RCV000333683
• dbSNP Id: rs147674174
• gnomAD v2: 8-21988233-A-G
• gnomAD v3: 8-22130720-A-G
• gnomAD v4: 8-22130720-A-G
• MyVariant Identifiers: chr8:g.21988233A>G (hg19) ; chr8:g.22130720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22130720A>G , CM000670.2:g.22130720A>G	GRCh38
NC_000008.10:g.21988233A>G , CM000670.1:g.21988233A>G	GRCh37
NC_000008.9:g.22044178A>G	NCBI36
NG_008166.1:g.4798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518377.3:c.-12T>C (HRURF) MANE Select	ENSP00000505144.1:n.-12T>C
ENST00000381418.9:c.-333T>C (HR) MANE Select	ENSP00000370826.4:n.-333T>C
ENST00000680789.1:c.-333T>C (HR)	ENSP00000505181.1:n.-333T>C
ENST00000312841.9:c.-333T>C (HR)	ENSP00000326765.8:n.-333T>C
ENST00000381418.8:c.-333T>C (HR)	ENSP00000370826.4:n.-333T>C
ENST00000518377.1:n.455T>C (HR)
NM_005144.4:c.-333T>C (HR)	NP_005135.2:n.-333T>C
NM_018411.4:c.-333T>C (HR)	NP_060881.2:n.-333T>C
XM_005273569.1:c.-333T>C (HR)	XP_005273626.1:n.-333T>C
XM_006716367.1:c.-333T>C (HR)	XP_006716430.1:n.-333T>C
XM_005273569.2:c.-333T>C (HR)	XP_005273626.1:n.-333T>C
NM_001394132.1:c.-12T>C (HRURF) MANE Select	NP_001381061.1:n.-12T>C
NM_005144.5:c.-333T>C (HR) MANE Select	NP_005135.2:n.-333T>C