Canonical Allele Identifier: CA283745759
Gene: RFWD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079375
ClinVar RCV Id: RCV002995326
dbSNP Id: rs1030253516

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74636382T>C , CM000678.2:g.74636382T>C GRCh38
NC_000016.9:g.74670280T>C , CM000678.1:g.74670280T>C GRCh37
NC_000016.8:g.73227781T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361070.9:c.1390A>G MANE Select ENSP00000354361.4:p.Ile464Val
ENST00000361070.8:c.1390A>G ENSP00000354361.4:p.Ile464Val
ENST00000571750.5:c.1390A>G ENSP00000460049.1:p.Ile464Val
NM_018124.3:c.1390A>G NP_060594.3:p.Ile464Val
XM_005256021.3:c.1390A>G XP_005256078.1:p.Ile464Val
XM_005256022.3:c.1390A>G XP_005256079.1:p.Ile464Val
XM_006721228.2:c.1390A>G XP_006721291.1:p.Ile464Val
XM_011523191.1:c.1390A>G XP_011521493.1:p.Ile464Val
XM_005256021.4:c.1390A>G XP_005256078.1:p.Ile464Val
XM_005256022.4:c.1390A>G XP_005256079.1:p.Ile464Val
XM_006721228.3:c.1390A>G XP_006721291.1:p.Ile464Val
XM_011523191.3:c.1390A>G XP_011521493.1:p.Ile464Val
XM_017023391.1:c.1390A>G XP_016878880.1:p.Ile464Val
XM_017023392.1:c.1390A>G XP_016878881.1:p.Ile464Val
NM_018124.4:c.1390A>G MANE Select NP_060594.3:p.Ile464Val
NM_001370534.1:c.1390A>G NP_001357463.1:p.Ile464Val
NM_001370535.1:c.1390A>G NP_001357464.1:p.Ile464Val
NM_001370536.1:c.1390A>G NP_001357465.1:p.Ile464Val
NM_001370537.1:c.556A>G NP_001357466.1:p.Ile186Val
NM_001370539.1:c.556A>G NP_001357468.1:p.Ile186Val
NM_001370540.1:c.556A>G NP_001357469.1:p.Ile186Val
NM_001370542.1:c.556A>G NP_001357471.1:p.Ile186Val
NM_001370543.1:c.556A>G NP_001357472.1:p.Ile186Val