Canonical Allele Identifier: CA118725

Linked Data

ClinVar Variation Id: 7342
ClinVar RCV Id: RCV001353148
dbSNP Id: rs267606867
gnomAD v4: 8-22130702-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22130702G>A , CM000670.2:g.22130702G>A GRCh38
NC_000008.10:g.21988215G>A , CM000670.1:g.21988215G>A GRCh37
NC_000008.9:g.22044160G>A NCBI36
NG_008166.1:g.4816C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000518377.3:c.7C>T (HRURF) MANE Select ENSP00000505144.1:p.Gln3Ter
ENST00000381418.9:c.-315C>T (HR) MANE Select ENSP00000370826.4:n.-315C>T
ENST00000518377.2:c.7C>T (HRURF) ENSP00000505144.1:p.Gln3Ter
ENST00000680789.1:c.-315C>T (HR) ENSP00000505181.1:n.-315C>T
ENST00000312841.9:c.-315C>T (HR) ENSP00000326765.8:n.-315C>T
ENST00000381418.8:c.-315C>T (HR) ENSP00000370826.4:n.-315C>T
ENST00000518377.1:n.473C>T (HR)
NM_005144.4:c.-315C>T (HR) NP_005135.2:n.-315C>T
NM_018411.4:c.-315C>T (HR) NP_060881.2:n.-315C>T
XM_005273569.1:c.-315C>T (HR) XP_005273626.1:n.-315C>T
XM_006716367.1:c.-315C>T (HR) XP_006716430.1:n.-315C>T
XM_005273569.2:c.-315C>T (HR) XP_005273626.1:n.-315C>T
NM_001394132.1:c.7C>T (HRURF) MANE Select NP_001381061.1:p.Gln3Ter
NM_005144.5:c.-315C>T (HR) MANE Select NP_005135.2:n.-315C>T