Canonical Allele Identifier: CA396761634

Gene: RFWD3

Linked Data

• ClinVar Variation Id: 2484781
• ClinVar RCV Id: RCV004278858
• dbSNP Id: rs759194011
• MyVariant Identifiers: chr16:g.74670318C>A (hg19) ; chr16:g.74636420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74636420C>A , CM000678.2:g.74636420C>A	GRCh38
NC_000016.9:g.74670318C>A , CM000678.1:g.74670318C>A	GRCh37
NC_000016.8:g.73227819C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1352G>T MANE Select	ENSP00000354361.4:p.Arg451Leu
ENST00000361070.8:c.1352G>T	ENSP00000354361.4:p.Arg451Leu
ENST00000571750.5:c.1352G>T	ENSP00000460049.1:p.Arg451Leu
NM_018124.3:c.1352G>T	NP_060594.3:p.Arg451Leu
XM_005256021.3:c.1352G>T	XP_005256078.1:p.Arg451Leu
XM_005256022.3:c.1352G>T	XP_005256079.1:p.Arg451Leu
XM_006721228.2:c.1352G>T	XP_006721291.1:p.Arg451Leu
XM_011523191.1:c.1352G>T	XP_011521493.1:p.Arg451Leu
XM_005256021.4:c.1352G>T	XP_005256078.1:p.Arg451Leu
XM_005256022.4:c.1352G>T	XP_005256079.1:p.Arg451Leu
XM_006721228.3:c.1352G>T	XP_006721291.1:p.Arg451Leu
XM_011523191.3:c.1352G>T	XP_011521493.1:p.Arg451Leu
XM_017023391.1:c.1352G>T	XP_016878880.1:p.Arg451Leu
XM_017023392.1:c.1352G>T	XP_016878881.1:p.Arg451Leu
NM_018124.4:c.1352G>T MANE Select	NP_060594.3:p.Arg451Leu
NM_001370534.1:c.1352G>T	NP_001357463.1:p.Arg451Leu
NM_001370535.1:c.1352G>T	NP_001357464.1:p.Arg451Leu
NM_001370536.1:c.1352G>T	NP_001357465.1:p.Arg451Leu
NM_001370537.1:c.518G>T	NP_001357466.1:p.Arg173Leu
NM_001370539.1:c.518G>T	NP_001357468.1:p.Arg173Leu
NM_001370540.1:c.518G>T	NP_001357469.1:p.Arg173Leu
NM_001370542.1:c.518G>T	NP_001357471.1:p.Arg173Leu
NM_001370543.1:c.518G>T	NP_001357472.1:p.Arg173Leu