Canonical Allele Identifier: CA8169104

Gene: RFWD3

Linked Data

• dbSNP Id: rs750061578
• ExAC: 16:74664731 CAT / C
• gnomAD v2: 16-74664731-CAT-C
• gnomAD v3: 16-74630833-CAT-C
• gnomAD v4: 16-74630833-CAT-C
• MyVariant Identifiers: chr16:g.74664732_74664733del (hg19) ; chr16:g.74630834_74630835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630837_74630838del , CM000678.2:g.74630837_74630838del	GRCh38
NC_000016.9:g.74664735_74664736del , CM000678.1:g.74664735_74664736del	GRCh37
NC_000016.8:g.73222236_73222237del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1700_1701del MANE Select	ENSP00000354361.4:p.Tyr567Ter
ENST00000361070.8:c.1700_1701del	ENSP00000354361.4:p.Tyr567Ter
ENST00000571750.5:c.1700_1701del	ENSP00000460049.1:p.Tyr567Ter
ENST00000575154.1:n.334_335del
NM_018124.3:c.1700_1701del	NP_060594.3:p.Tyr567Ter
XM_005256021.3:c.1700_1701del	XP_005256078.1:p.Tyr567Ter
XM_005256022.3:c.1700_1701del	XP_005256079.1:p.Tyr567Ter
XM_006721228.2:c.1577+1688_1577+1689del	XP_006721291.1:n.1577+1688_1577+1689del
XM_011523191.1:c.1700_1701del	XP_011521493.1:p.Tyr567Ter
XM_005256021.4:c.1700_1701del	XP_005256078.1:p.Tyr567Ter
XM_005256022.4:c.1700_1701del	XP_005256079.1:p.Tyr567Ter
XM_006721228.3:c.1577+1688_1577+1689del	XP_006721291.1:n.1577+1688_1577+1689del
XM_011523191.3:c.1700_1701del	XP_011521493.1:p.Tyr567Ter
XM_017023391.1:c.1700_1701del	XP_016878880.1:p.Tyr567Ter
XM_017023392.1:c.1577+1688_1577+1689del	XP_016878881.1:n.1577+1688_1577+1689del
NM_018124.4:c.1700_1701del MANE Select	NP_060594.3:p.Tyr567Ter
NM_001370534.1:c.1700_1701del	NP_001357463.1:p.Tyr567Ter
NM_001370535.1:c.1700_1701del	NP_001357464.1:p.Tyr567Ter
NM_001370536.1:c.1577+1688_1577+1689del	NP_001357465.1:n.1577+1688_1577+1689del
NM_001370537.1:c.866_867del	NP_001357466.1:p.Tyr289Ter
NM_001370539.1:c.866_867del	NP_001357468.1:p.Tyr289Ter
NM_001370540.1:c.866_867del	NP_001357469.1:p.Tyr289Ter
NM_001370542.1:c.866_867del	NP_001357471.1:p.Tyr289Ter
NM_001370543.1:c.866_867del	NP_001357472.1:p.Tyr289Ter