Canonical Allele Identifier: CA16044125
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

ClinVar Variation Id: 221624
ClinVar RCV Id: RCV000416681
dbSNP Id: rs1057519367

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111405476T>A , CM000668.2:g.111405476T>A GRCh38
NC_000006.11:g.111726679T>A , CM000668.1:g.111726679T>A GRCh37
NC_000006.10:g.111833372T>A NCBI36
NG_053000.1:g.83240A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368802.8:c.559A>T (REV3L) MANE Select ENSP00000357792.3:p.Arg187Trp
ENST00000673446.1:n.248-35227T>A (MFSD4B)
ENST00000358835.7:c.559A>T (REV3L) ENSP00000351697.3:p.Arg187Trp
ENST00000368802.7:c.559A>T (REV3L) ENSP00000357792.3:p.Arg187Trp
ENST00000368805.5:c.559A>T (REV3L) ENSP00000357795.1:p.Arg187Trp
ENST00000422377.5:c.*543A>T (REV3L) ENSP00000393184.1:n.*543A>T
ENST00000434009.5:c.*650A>T (REV3L) ENSP00000391605.1:n.*650A>T
ENST00000435970.5:c.325A>T (REV3L) ENSP00000402003.1:p.Arg109Trp
ENST00000460981.1:n.157A>T (REV3L)
ENST00000494858.1:n.232A>T (REV3L)
NM_001286431.1:c.325A>T (REV3L) NP_001273360.1:p.Arg109Trp
NM_001286432.1:c.325A>T (REV3L) NP_001273361.1:p.Arg109Trp
NM_002912.4:c.559A>T (REV3L) NP_002903.3:p.Arg187Trp
XM_006715543.2:c.559A>T (REV3L) XP_006715606.1:p.Arg187Trp
XM_006715544.2:c.325A>T (REV3L) XP_006715607.1:p.Arg109Trp
XM_011536028.1:c.559A>T (REV3L) XP_011534330.1:p.Arg187Trp
XM_011536029.1:c.559A>T (REV3L) XP_011534331.1:p.Arg187Trp
XM_011536030.1:c.559A>T (REV3L) XP_011534332.1:p.Arg187Trp
XM_011536031.1:c.325A>T (REV3L) XP_011534333.1:p.Arg109Trp
XM_011536032.1:c.325A>T (REV3L) XP_011534334.1:p.Arg109Trp
XM_011536033.1:c.559A>T (REV3L) XP_011534335.1:p.Arg187Trp
XM_011536034.1:c.559A>T (REV3L) XP_011534336.1:p.Arg187Trp
XM_011536035.1:c.559A>T (REV3L) XP_011534337.1:p.Arg187Trp
XM_011536036.1:c.559A>T (REV3L) XP_011534338.1:p.Arg187Trp
XR_942545.1:n.1108A>T (REV3L)
XR_942546.1:n.1108A>T (REV3L)
XM_011536028.2:c.559A>T (REV3L) XP_011534330.1:p.Arg187Trp
XM_011536029.3:c.559A>T (REV3L) XP_011534331.1:p.Arg187Trp
XM_011536030.3:c.559A>T (REV3L) XP_011534332.1:p.Arg187Trp
XM_011536031.3:c.325A>T (REV3L) XP_011534333.1:p.Arg109Trp
XM_011536032.2:c.325A>T (REV3L) XP_011534334.1:p.Arg109Trp
XM_011536036.3:c.559A>T (REV3L) XP_011534338.1:p.Arg187Trp
XM_017011152.2:c.325A>T (REV3L) XP_016866641.1:p.Arg109Trp
XM_017011153.1:c.325A>T (REV3L) XP_016866642.1:p.Arg109Trp
XM_017011154.1:c.325A>T (REV3L) XP_016866643.1:p.Arg109Trp
XM_017011155.2:c.559A>T (REV3L) XP_016866644.1:p.Arg187Trp
XR_001743550.2:n.855A>T (REV3L)
XR_001743552.2:n.855A>T (REV3L)
XR_001743553.2:n.855A>T (REV3L)
XR_001743554.2:n.855A>T (REV3L)
XR_001743555.2:n.855A>T (REV3L)
XR_001743556.2:n.855A>T (REV3L)
XR_002956293.1:n.855A>T (REV3L)
NM_001286431.2:c.325A>T (REV3L) NP_001273360.1:p.Arg109Trp
NM_001372078.1:c.559A>T (REV3L) MANE Select NP_001359007.1:p.Arg187Trp
NM_001286432.2:c.325A>T (REV3L) NP_001273361.1:p.Arg109Trp
NM_002912.5:c.559A>T (REV3L) NP_002903.3:p.Arg187Trp