Canonical Allele Identifier: CA365254569

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs1772456595
• gnomAD v3: 6-111307551-G-T
• gnomAD v4: 6-111307551-G-T
• MyVariant Identifiers: chr6:g.111628754G>T (hg19) ; chr6:g.111307551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307551G>T , CM000668.2:g.111307551G>T	GRCh38
NC_000006.11:g.111628754G>T , CM000668.1:g.111628754G>T	GRCh37
NC_000006.10:g.111735447G>T	NCBI36
NG_053000.1:g.181165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9062C>A (REV3L) MANE Select	ENSP00000357792.3:p.Ser3021Tyr
ENST00000666581.2:n.277+29393G>T (MFSD4B)
ENST00000673245.1:n.273+11776G>T (MFSD4B)
ENST00000673446.1:n.179+39714G>T (MFSD4B)
ENST00000358835.7:c.9062C>A (REV3L)	ENSP00000351697.3:p.Ser3021Tyr
ENST00000368802.7:c.9062C>A (REV3L)	ENSP00000357792.3:p.Ser3021Tyr
ENST00000368805.5:c.9062C>A (REV3L)	ENSP00000357795.1:p.Ser3021Tyr
ENST00000422377.5:c.*9046C>A (REV3L)	ENSP00000393184.1:n.*9046C>A
ENST00000434009.5:c.*9153C>A (REV3L)	ENSP00000391605.1:n.*9153C>A
ENST00000435970.5:c.8828C>A (REV3L)	ENSP00000402003.1:p.Ser2943Tyr
ENST00000462119.5:n.1199C>A (REV3L)
NM_001286431.1:c.8828C>A (REV3L)	NP_001273360.1:p.Ser2943Tyr
NM_001286432.1:c.8828C>A (REV3L)	NP_001273361.1:p.Ser2943Tyr
NM_002912.4:c.9062C>A (REV3L)	NP_002903.3:p.Ser3021Tyr
XM_006715543.2:c.9062C>A (REV3L)	XP_006715606.1:p.Ser3021Tyr
XM_006715544.2:c.8828C>A (REV3L)	XP_006715607.1:p.Ser2943Tyr
XM_011536028.1:c.9143C>A (REV3L)	XP_011534330.1:p.Ser3048Tyr
XM_011536029.1:c.9140C>A (REV3L)	XP_011534331.1:p.Ser3047Tyr
XM_011536030.1:c.9065C>A (REV3L)	XP_011534332.1:p.Ser3022Tyr
XM_011536031.1:c.8909C>A (REV3L)	XP_011534333.1:p.Ser2970Tyr
XM_011536032.1:c.8909C>A (REV3L)	XP_011534334.1:p.Ser2970Tyr
XR_942871.1:n.2045+29393G>T
XM_011536028.2:c.9143C>A (REV3L)	XP_011534330.1:p.Ser3048Tyr
XM_011536029.3:c.9140C>A (REV3L)	XP_011534331.1:p.Ser3047Tyr
XM_011536030.3:c.9065C>A (REV3L)	XP_011534332.1:p.Ser3022Tyr
XM_011536031.3:c.8909C>A (REV3L)	XP_011534333.1:p.Ser2970Tyr
XM_011536032.2:c.8909C>A (REV3L)	XP_011534334.1:p.Ser2970Tyr
XM_017011152.2:c.8906C>A (REV3L)	XP_016866641.1:p.Ser2969Tyr
XM_017011153.1:c.8906C>A (REV3L)	XP_016866642.1:p.Ser2969Tyr
XM_017011154.1:c.8906C>A (REV3L)	XP_016866643.1:p.Ser2969Tyr
XR_001743550.2:n.9248C>A (REV3L)
XR_001743552.2:n.9170C>A (REV3L)
XR_001743553.2:n.9566C>A (REV3L)
XR_001743555.2:n.9488C>A (REV3L)
XR_001743556.2:n.9295C>A (REV3L)
XR_002956293.1:n.10506C>A (REV3L)
NM_001286431.2:c.8828C>A (REV3L)	NP_001273360.1:p.Ser2943Tyr
NM_001372078.1:c.9062C>A (REV3L) MANE Select	NP_001359007.1:p.Ser3021Tyr
NM_001286432.2:c.8828C>A (REV3L)	NP_001273361.1:p.Ser2943Tyr
NM_002912.5:c.9062C>A (REV3L)	NP_002903.3:p.Ser3021Tyr