Canonical Allele Identifier: CA8169096

Gene: RFWD3

Linked Data

• ClinVar Variation Id: 2871542
• ClinVar RCV Id: RCV003698541
• dbSNP Id: rs558687934
• ExAC: 16:74664718 G / A
• gnomAD v2: 16-74664718-G-A
• gnomAD v3: 16-74630820-G-A
• gnomAD v4: 16-74630820-G-A
• MyVariant Identifiers: chr16:g.74664718G>A (hg19) ; chr16:g.74630820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630820G>A , CM000678.2:g.74630820G>A	GRCh38
NC_000016.9:g.74664718G>A , CM000678.1:g.74664718G>A	GRCh37
NC_000016.8:g.73222219G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1715C>T MANE Select	ENSP00000354361.4:p.Thr572Met
ENST00000361070.8:c.1715C>T	ENSP00000354361.4:p.Thr572Met
ENST00000571750.5:c.1715C>T	ENSP00000460049.1:p.Thr572Met
ENST00000575154.1:n.349C>T
NM_018124.3:c.1715C>T	NP_060594.3:p.Thr572Met
XM_005256021.3:c.1715C>T	XP_005256078.1:p.Thr572Met
XM_005256022.3:c.1715C>T	XP_005256079.1:p.Thr572Met
XM_006721228.2:c.1577+1703C>T	XP_006721291.1:n.1577+1703C>T
XM_011523191.1:c.1715C>T	XP_011521493.1:p.Thr572Met
XM_005256021.4:c.1715C>T	XP_005256078.1:p.Thr572Met
XM_005256022.4:c.1715C>T	XP_005256079.1:p.Thr572Met
XM_006721228.3:c.1577+1703C>T	XP_006721291.1:n.1577+1703C>T
XM_011523191.3:c.1715C>T	XP_011521493.1:p.Thr572Met
XM_017023391.1:c.1715C>T	XP_016878880.1:p.Thr572Met
XM_017023392.1:c.1577+1703C>T	XP_016878881.1:n.1577+1703C>T
NM_018124.4:c.1715C>T MANE Select	NP_060594.3:p.Thr572Met
NM_001370534.1:c.1715C>T	NP_001357463.1:p.Thr572Met
NM_001370535.1:c.1715C>T	NP_001357464.1:p.Thr572Met
NM_001370536.1:c.1577+1703C>T	NP_001357465.1:n.1577+1703C>T
NM_001370537.1:c.881C>T	NP_001357466.1:p.Thr294Met
NM_001370539.1:c.881C>T	NP_001357468.1:p.Thr294Met
NM_001370540.1:c.881C>T	NP_001357469.1:p.Thr294Met
NM_001370542.1:c.881C>T	NP_001357471.1:p.Thr294Met
NM_001370543.1:c.881C>T	NP_001357472.1:p.Thr294Met