Canonical Allele Identifier: CA8169082

Gene: RFWD3

Linked Data

• dbSNP Id: rs754238912
• ExAC: 16:74664647 T / TAA
• gnomAD v2: 16-74664647-T-TAA
• gnomAD v3: 16-74630749-T-TAA
• gnomAD v4: 16-74630749-T-TAA
• MyVariant Identifiers: chr16:g.74664647_74664648insAA (hg19) ; chr16:g.74630749_74630750insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630750_74630751insAA , CM000678.2:g.74630750_74630751insAA	GRCh38
NC_000016.9:g.74664648_74664649insAA , CM000678.1:g.74664648_74664649insAA	GRCh37
NC_000016.8:g.73222149_73222150insAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361070.9:c.1754+31_1754+32insTT MANE Select	ENSP00000354361.4:n.1754+31_1754+32insTT
ENST00000361070.8:c.1754+31_1754+32insTT	ENSP00000354361.4:n.1754+31_1754+32insTT
ENST00000571750.5:c.1754+31_1754+32insTT	ENSP00000460049.1:n.1754+31_1754+32insTT
ENST00000575154.1:n.388+31_388+32insTT
NM_018124.3:c.1754+31_1754+32insTT	NP_060594.3:n.1754+31_1754+32insTT
XM_005256021.3:c.1754+31_1754+32insTT	XP_005256078.1:n.1754+31_1754+32insTT
XM_005256022.3:c.1754+31_1754+32insTT	XP_005256079.1:n.1754+31_1754+32insTT
XM_006721228.2:c.1577+1773_1577+1774insTT	XP_006721291.1:n.1577+1773_1577+1774insTT
XM_011523191.1:c.1754+31_1754+32insTT	XP_011521493.1:n.1754+31_1754+32insTT
XM_005256021.4:c.1754+31_1754+32insTT	XP_005256078.1:n.1754+31_1754+32insTT
XM_005256022.4:c.1754+31_1754+32insTT	XP_005256079.1:n.1754+31_1754+32insTT
XM_006721228.3:c.1577+1773_1577+1774insTT	XP_006721291.1:n.1577+1773_1577+1774insTT
XM_011523191.3:c.1754+31_1754+32insTT	XP_011521493.1:n.1754+31_1754+32insTT
XM_017023391.1:c.1754+31_1754+32insTT	XP_016878880.1:n.1754+31_1754+32insTT
XM_017023392.1:c.1577+1773_1577+1774insTT	XP_016878881.1:n.1577+1773_1577+1774insTT
NM_018124.4:c.1754+31_1754+32insTT MANE Select	NP_060594.3:n.1754+31_1754+32insTT
NM_001370534.1:c.1754+31_1754+32insTT	NP_001357463.1:n.1754+31_1754+32insTT
NM_001370535.1:c.1754+31_1754+32insTT	NP_001357464.1:n.1754+31_1754+32insTT
NM_001370536.1:c.1577+1773_1577+1774insTT	NP_001357465.1:n.1577+1773_1577+1774insTT
NM_001370537.1:c.920+31_920+32insTT	NP_001357466.1:n.920+31_920+32insTT
NM_001370539.1:c.920+31_920+32insTT	NP_001357468.1:n.920+31_920+32insTT
NM_001370540.1:c.920+31_920+32insTT	NP_001357469.1:n.920+31_920+32insTT
NM_001370542.1:c.920+31_920+32insTT	NP_001357471.1:n.920+31_920+32insTT
NM_001370543.1:c.920+31_920+32insTT	NP_001357472.1:n.920+31_920+32insTT