Canonical Allele Identifier: CA396761486

Gene: RFWD3

Linked Data

• gnomAD v4: 16-74636387-A-C
• MyVariant Identifiers: chr16:g.74670285A>C (hg19) ; chr16:g.74636387A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74636387A>C , CM000678.2:g.74636387A>C	GRCh38
NC_000016.9:g.74670285A>C , CM000678.1:g.74670285A>C	GRCh37
NC_000016.8:g.73227786A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1385T>G MANE Select	ENSP00000354361.4:p.Leu462Arg
ENST00000361070.8:c.1385T>G	ENSP00000354361.4:p.Leu462Arg
ENST00000571750.5:c.1385T>G	ENSP00000460049.1:p.Leu462Arg
NM_018124.3:c.1385T>G	NP_060594.3:p.Leu462Arg
XM_005256021.3:c.1385T>G	XP_005256078.1:p.Leu462Arg
XM_005256022.3:c.1385T>G	XP_005256079.1:p.Leu462Arg
XM_006721228.2:c.1385T>G	XP_006721291.1:p.Leu462Arg
XM_011523191.1:c.1385T>G	XP_011521493.1:p.Leu462Arg
XM_005256021.4:c.1385T>G	XP_005256078.1:p.Leu462Arg
XM_005256022.4:c.1385T>G	XP_005256079.1:p.Leu462Arg
XM_006721228.3:c.1385T>G	XP_006721291.1:p.Leu462Arg
XM_011523191.3:c.1385T>G	XP_011521493.1:p.Leu462Arg
XM_017023391.1:c.1385T>G	XP_016878880.1:p.Leu462Arg
XM_017023392.1:c.1385T>G	XP_016878881.1:p.Leu462Arg
NM_018124.4:c.1385T>G MANE Select	NP_060594.3:p.Leu462Arg
NM_001370534.1:c.1385T>G	NP_001357463.1:p.Leu462Arg
NM_001370535.1:c.1385T>G	NP_001357464.1:p.Leu462Arg
NM_001370536.1:c.1385T>G	NP_001357465.1:p.Leu462Arg
NM_001370537.1:c.551T>G	NP_001357466.1:p.Leu184Arg
NM_001370539.1:c.551T>G	NP_001357468.1:p.Leu184Arg
NM_001370540.1:c.551T>G	NP_001357469.1:p.Leu184Arg
NM_001370542.1:c.551T>G	NP_001357471.1:p.Leu184Arg
NM_001370543.1:c.551T>G	NP_001357472.1:p.Leu184Arg