Canonical Allele Identifier: CA365254107
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307376C>G , CM000668.2:g.111307376C>G GRCh38
NC_000006.11:g.111628579C>G , CM000668.1:g.111628579C>G GRCh37
NC_000006.10:g.111735272C>G NCBI36
NG_053000.1:g.181340G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9237G>C (REV3L) MANE Select ENSP00000357792.3:p.Gln3079His
ENST00000666581.2:n.277+29218C>G (MFSD4B)
ENST00000673245.1:n.273+11601C>G (MFSD4B)
ENST00000673446.1:n.179+39539C>G (MFSD4B)
ENST00000358835.7:c.9237G>C (REV3L) ENSP00000351697.3:p.Gln3079His
ENST00000368802.7:c.9237G>C (REV3L) ENSP00000357792.3:p.Gln3079His
ENST00000368805.5:c.9237G>C (REV3L) ENSP00000357795.1:p.Gln3079His
ENST00000422377.5:c.*9221G>C (REV3L) ENSP00000393184.1:n.*9221G>C
ENST00000434009.5:c.*9328G>C (REV3L) ENSP00000391605.1:n.*9328G>C
ENST00000435970.5:c.9003G>C (REV3L) ENSP00000402003.1:p.Gln3001His
ENST00000462119.5:n.1374G>C (REV3L)
NM_001286431.1:c.9003G>C (REV3L) NP_001273360.1:p.Gln3001His
NM_001286432.1:c.9003G>C (REV3L) NP_001273361.1:p.Gln3001His
NM_002912.4:c.9237G>C (REV3L) NP_002903.3:p.Gln3079His
XM_006715543.2:c.9237G>C (REV3L) XP_006715606.1:p.Gln3079His
XM_006715544.2:c.9003G>C (REV3L) XP_006715607.1:p.Gln3001His
XM_011536028.1:c.9318G>C (REV3L) XP_011534330.1:p.Gln3106His
XM_011536029.1:c.9315G>C (REV3L) XP_011534331.1:p.Gln3105His
XM_011536030.1:c.9240G>C (REV3L) XP_011534332.1:p.Gln3080His
XM_011536031.1:c.9084G>C (REV3L) XP_011534333.1:p.Gln3028His
XM_011536032.1:c.9084G>C (REV3L) XP_011534334.1:p.Gln3028His
XR_942871.1:n.2045+29218C>G
XM_011536028.2:c.9318G>C (REV3L) XP_011534330.1:p.Gln3106His
XM_011536029.3:c.9315G>C (REV3L) XP_011534331.1:p.Gln3105His
XM_011536030.3:c.9240G>C (REV3L) XP_011534332.1:p.Gln3080His
XM_011536031.3:c.9084G>C (REV3L) XP_011534333.1:p.Gln3028His
XM_011536032.2:c.9084G>C (REV3L) XP_011534334.1:p.Gln3028His
XM_017011152.2:c.9081G>C (REV3L) XP_016866641.1:p.Gln3027His
XM_017011153.1:c.9081G>C (REV3L) XP_016866642.1:p.Gln3027His
XM_017011154.1:c.9081G>C (REV3L) XP_016866643.1:p.Gln3027His
XR_001743550.2:n.9423G>C (REV3L)
XR_001743552.2:n.9345G>C (REV3L)
XR_001743553.2:n.9741G>C (REV3L)
XR_001743555.2:n.9663G>C (REV3L)
XR_001743556.2:n.9470G>C (REV3L)
XR_002956293.1:n.10681G>C (REV3L)
NM_001286431.2:c.9003G>C (REV3L) NP_001273360.1:p.Gln3001His
NM_001372078.1:c.9237G>C (REV3L) MANE Select NP_001359007.1:p.Gln3079His
NM_001286432.2:c.9003G>C (REV3L) NP_001273361.1:p.Gln3001His
NM_002912.5:c.9237G>C (REV3L) NP_002903.3:p.Gln3079His