Canonical Allele Identifier: CA365254310
Gene: REV3L HGNC NCBI
MFSD4B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.111307433T>G , CM000668.2:g.111307433T>G GRCh38
NC_000006.11:g.111628636T>G , CM000668.1:g.111628636T>G GRCh37
NC_000006.10:g.111735329T>G NCBI36
NG_053000.1:g.181283A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368802.8:c.9180A>C (REV3L) MANE Select ENSP00000357792.3:p.Gln3060His
ENST00000666581.2:n.277+29275T>G (MFSD4B)
ENST00000673245.1:n.273+11658T>G (MFSD4B)
ENST00000673446.1:n.179+39596T>G (MFSD4B)
ENST00000358835.7:c.9180A>C (REV3L) ENSP00000351697.3:p.Gln3060His
ENST00000368802.7:c.9180A>C (REV3L) ENSP00000357792.3:p.Gln3060His
ENST00000368805.5:c.9180A>C (REV3L) ENSP00000357795.1:p.Gln3060His
ENST00000422377.5:c.*9164A>C (REV3L) ENSP00000393184.1:n.*9164A>C
ENST00000434009.5:c.*9271A>C (REV3L) ENSP00000391605.1:n.*9271A>C
ENST00000435970.5:c.8946A>C (REV3L) ENSP00000402003.1:p.Gln2982His
ENST00000462119.5:n.1317A>C (REV3L)
NM_001286431.1:c.8946A>C (REV3L) NP_001273360.1:p.Gln2982His
NM_001286432.1:c.8946A>C (REV3L) NP_001273361.1:p.Gln2982His
NM_002912.4:c.9180A>C (REV3L) NP_002903.3:p.Gln3060His
XM_006715543.2:c.9180A>C (REV3L) XP_006715606.1:p.Gln3060His
XM_006715544.2:c.8946A>C (REV3L) XP_006715607.1:p.Gln2982His
XM_011536028.1:c.9261A>C (REV3L) XP_011534330.1:p.Gln3087His
XM_011536029.1:c.9258A>C (REV3L) XP_011534331.1:p.Gln3086His
XM_011536030.1:c.9183A>C (REV3L) XP_011534332.1:p.Gln3061His
XM_011536031.1:c.9027A>C (REV3L) XP_011534333.1:p.Gln3009His
XM_011536032.1:c.9027A>C (REV3L) XP_011534334.1:p.Gln3009His
XR_942871.1:n.2045+29275T>G
XM_011536028.2:c.9261A>C (REV3L) XP_011534330.1:p.Gln3087His
XM_011536029.3:c.9258A>C (REV3L) XP_011534331.1:p.Gln3086His
XM_011536030.3:c.9183A>C (REV3L) XP_011534332.1:p.Gln3061His
XM_011536031.3:c.9027A>C (REV3L) XP_011534333.1:p.Gln3009His
XM_011536032.2:c.9027A>C (REV3L) XP_011534334.1:p.Gln3009His
XM_017011152.2:c.9024A>C (REV3L) XP_016866641.1:p.Gln3008His
XM_017011153.1:c.9024A>C (REV3L) XP_016866642.1:p.Gln3008His
XM_017011154.1:c.9024A>C (REV3L) XP_016866643.1:p.Gln3008His
XR_001743550.2:n.9366A>C (REV3L)
XR_001743552.2:n.9288A>C (REV3L)
XR_001743553.2:n.9684A>C (REV3L)
XR_001743555.2:n.9606A>C (REV3L)
XR_001743556.2:n.9413A>C (REV3L)
XR_002956293.1:n.10624A>C (REV3L)
NM_001286431.2:c.8946A>C (REV3L) NP_001273360.1:p.Gln2982His
NM_001372078.1:c.9180A>C (REV3L) MANE Select NP_001359007.1:p.Gln3060His
NM_001286432.2:c.8946A>C (REV3L) NP_001273361.1:p.Gln2982His
NM_002912.5:c.9180A>C (REV3L) NP_002903.3:p.Gln3060His