Canonical Allele Identifier: CA451780769
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.111628753G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307550G>C , CM000668.2:g.111307550G>C GRCh38
NC_000006.11:g.111628753G>C , CM000668.1:g.111628753G>C GRCh37
NC_000006.10:g.111735446G>C NCBI36
NG_053000.1:g.181166C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9063C>G (REV3L) MANE Select ENSP00000357792.3:p.Ser3021=
ENST00000666581.2:n.277+29392G>C (MFSD4B)
ENST00000673245.1:n.273+11775G>C (MFSD4B)
ENST00000673446.1:n.179+39713G>C (MFSD4B)
ENST00000358835.7:c.9063C>G (REV3L) ENSP00000351697.3:p.Ser3021=
ENST00000368802.7:c.9063C>G (REV3L) ENSP00000357792.3:p.Ser3021=
ENST00000368805.5:c.9063C>G (REV3L) ENSP00000357795.1:p.Ser3021=
ENST00000422377.5:c.*9047C>G (REV3L) ENSP00000393184.1:n.*9047C>G
ENST00000434009.5:c.*9154C>G (REV3L) ENSP00000391605.1:n.*9154C>G
ENST00000435970.5:c.8829C>G (REV3L) ENSP00000402003.1:p.Ser2943=
ENST00000462119.5:n.1200C>G (REV3L)
NM_001286431.1:c.8829C>G (REV3L) NP_001273360.1:p.Ser2943=
NM_001286432.1:c.8829C>G (REV3L) NP_001273361.1:p.Ser2943=
NM_002912.4:c.9063C>G (REV3L) NP_002903.3:p.Ser3021=
XM_006715543.2:c.9063C>G (REV3L) XP_006715606.1:p.Ser3021=
XM_006715544.2:c.8829C>G (REV3L) XP_006715607.1:p.Ser2943=
XM_011536028.1:c.9144C>G (REV3L) XP_011534330.1:p.Ser3048=
XM_011536029.1:c.9141C>G (REV3L) XP_011534331.1:p.Ser3047=
XM_011536030.1:c.9066C>G (REV3L) XP_011534332.1:p.Ser3022=
XM_011536031.1:c.8910C>G (REV3L) XP_011534333.1:p.Ser2970=
XM_011536032.1:c.8910C>G (REV3L) XP_011534334.1:p.Ser2970=
XR_942871.1:n.2045+29392G>C
XM_011536028.2:c.9144C>G (REV3L) XP_011534330.1:p.Ser3048=
XM_011536029.3:c.9141C>G (REV3L) XP_011534331.1:p.Ser3047=
XM_011536030.3:c.9066C>G (REV3L) XP_011534332.1:p.Ser3022=
XM_011536031.3:c.8910C>G (REV3L) XP_011534333.1:p.Ser2970=
XM_011536032.2:c.8910C>G (REV3L) XP_011534334.1:p.Ser2970=
XM_017011152.2:c.8907C>G (REV3L) XP_016866641.1:p.Ser2969=
XM_017011153.1:c.8907C>G (REV3L) XP_016866642.1:p.Ser2969=
XM_017011154.1:c.8907C>G (REV3L) XP_016866643.1:p.Ser2969=
XR_001743550.2:n.9249C>G (REV3L)
XR_001743552.2:n.9171C>G (REV3L)
XR_001743553.2:n.9567C>G (REV3L)
XR_001743555.2:n.9489C>G (REV3L)
XR_001743556.2:n.9296C>G (REV3L)
XR_002956293.1:n.10507C>G (REV3L)
NM_001286431.2:c.8829C>G (REV3L) NP_001273360.1:p.Ser2943=
NM_001372078.1:c.9063C>G (REV3L) MANE Select NP_001359007.1:p.Ser3021=
NM_001286432.2:c.8829C>G (REV3L) NP_001273361.1:p.Ser2943=
NM_002912.5:c.9063C>G (REV3L) NP_002903.3:p.Ser3021=