Canonical Allele Identifier: CA451780787
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.111628765T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307562T>C , CM000668.2:g.111307562T>C GRCh38
NC_000006.11:g.111628765T>C , CM000668.1:g.111628765T>C GRCh37
NC_000006.10:g.111735458T>C NCBI36
NG_053000.1:g.181154A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9051A>G (REV3L) MANE Select ENSP00000357792.3:p.Lys3017=
ENST00000666581.2:n.277+29404T>C (MFSD4B)
ENST00000673245.1:n.273+11787T>C (MFSD4B)
ENST00000673446.1:n.179+39725T>C (MFSD4B)
ENST00000358835.7:c.9051A>G (REV3L) ENSP00000351697.3:p.Lys3017=
ENST00000368802.7:c.9051A>G (REV3L) ENSP00000357792.3:p.Lys3017=
ENST00000368805.5:c.9051A>G (REV3L) ENSP00000357795.1:p.Lys3017=
ENST00000422377.5:c.*9035A>G (REV3L) ENSP00000393184.1:n.*9035A>G
ENST00000434009.5:c.*9142A>G (REV3L) ENSP00000391605.1:n.*9142A>G
ENST00000435970.5:c.8817A>G (REV3L) ENSP00000402003.1:p.Lys2939=
ENST00000462119.5:n.1188A>G (REV3L)
NM_001286431.1:c.8817A>G (REV3L) NP_001273360.1:p.Lys2939=
NM_001286432.1:c.8817A>G (REV3L) NP_001273361.1:p.Lys2939=
NM_002912.4:c.9051A>G (REV3L) NP_002903.3:p.Lys3017=
XM_006715543.2:c.9051A>G (REV3L) XP_006715606.1:p.Lys3017=
XM_006715544.2:c.8817A>G (REV3L) XP_006715607.1:p.Lys2939=
XM_011536028.1:c.9132A>G (REV3L) XP_011534330.1:p.Lys3044=
XM_011536029.1:c.9129A>G (REV3L) XP_011534331.1:p.Lys3043=
XM_011536030.1:c.9054A>G (REV3L) XP_011534332.1:p.Lys3018=
XM_011536031.1:c.8898A>G (REV3L) XP_011534333.1:p.Lys2966=
XM_011536032.1:c.8898A>G (REV3L) XP_011534334.1:p.Lys2966=
XR_942871.1:n.2045+29404T>C
XM_011536028.2:c.9132A>G (REV3L) XP_011534330.1:p.Lys3044=
XM_011536029.3:c.9129A>G (REV3L) XP_011534331.1:p.Lys3043=
XM_011536030.3:c.9054A>G (REV3L) XP_011534332.1:p.Lys3018=
XM_011536031.3:c.8898A>G (REV3L) XP_011534333.1:p.Lys2966=
XM_011536032.2:c.8898A>G (REV3L) XP_011534334.1:p.Lys2966=
XM_017011152.2:c.8895A>G (REV3L) XP_016866641.1:p.Lys2965=
XM_017011153.1:c.8895A>G (REV3L) XP_016866642.1:p.Lys2965=
XM_017011154.1:c.8895A>G (REV3L) XP_016866643.1:p.Lys2965=
XR_001743550.2:n.9237A>G (REV3L)
XR_001743552.2:n.9159A>G (REV3L)
XR_001743553.2:n.9555A>G (REV3L)
XR_001743555.2:n.9477A>G (REV3L)
XR_001743556.2:n.9284A>G (REV3L)
XR_002956293.1:n.10495A>G (REV3L)
NM_001286431.2:c.8817A>G (REV3L) NP_001273360.1:p.Lys2939=
NM_001372078.1:c.9051A>G (REV3L) MANE Select NP_001359007.1:p.Lys3017=
NM_001286432.2:c.8817A>G (REV3L) NP_001273361.1:p.Lys2939=
NM_002912.5:c.9051A>G (REV3L) NP_002903.3:p.Lys3017=