Canonical Allele Identifier: CA396760175

Gene: RFWD3

Linked Data

• dbSNP Id: rs769140398
• gnomAD v3: 16-74630810-A-T
• gnomAD v4: 16-74630810-A-T
• MyVariant Identifiers: chr16:g.74664708A>T (hg19) ; chr16:g.74630810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630810A>T , CM000678.2:g.74630810A>T	GRCh38
NC_000016.9:g.74664708A>T , CM000678.1:g.74664708A>T	GRCh37
NC_000016.8:g.73222209A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1725T>A MANE Select	ENSP00000354361.4:p.His575Gln
ENST00000361070.8:c.1725T>A	ENSP00000354361.4:p.His575Gln
ENST00000571750.5:c.1725T>A	ENSP00000460049.1:p.His575Gln
ENST00000575154.1:n.359T>A
NM_018124.3:c.1725T>A	NP_060594.3:p.His575Gln
XM_005256021.3:c.1725T>A	XP_005256078.1:p.His575Gln
XM_005256022.3:c.1725T>A	XP_005256079.1:p.His575Gln
XM_006721228.2:c.1577+1713T>A	XP_006721291.1:n.1577+1713T>A
XM_011523191.1:c.1725T>A	XP_011521493.1:p.His575Gln
XM_005256021.4:c.1725T>A	XP_005256078.1:p.His575Gln
XM_005256022.4:c.1725T>A	XP_005256079.1:p.His575Gln
XM_006721228.3:c.1577+1713T>A	XP_006721291.1:n.1577+1713T>A
XM_011523191.3:c.1725T>A	XP_011521493.1:p.His575Gln
XM_017023391.1:c.1725T>A	XP_016878880.1:p.His575Gln
XM_017023392.1:c.1577+1713T>A	XP_016878881.1:n.1577+1713T>A
NM_018124.4:c.1725T>A MANE Select	NP_060594.3:p.His575Gln
NM_001370534.1:c.1725T>A	NP_001357463.1:p.His575Gln
NM_001370535.1:c.1725T>A	NP_001357464.1:p.His575Gln
NM_001370536.1:c.1577+1713T>A	NP_001357465.1:n.1577+1713T>A
NM_001370537.1:c.891T>A	NP_001357466.1:p.His297Gln
NM_001370539.1:c.891T>A	NP_001357468.1:p.His297Gln
NM_001370540.1:c.891T>A	NP_001357469.1:p.His297Gln
NM_001370542.1:c.891T>A	NP_001357471.1:p.His297Gln
NM_001370543.1:c.891T>A	NP_001357472.1:p.His297Gln