Canonical Allele Identifier: CA365254352

Gene: REV3L MFSD4B

Linked Data

• gnomAD v4: 6-111307450-T-G
• MyVariant Identifiers: chr6:g.111628653T>G (hg19) ; chr6:g.111307450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307450T>G , CM000668.2:g.111307450T>G	GRCh38
NC_000006.11:g.111628653T>G , CM000668.1:g.111628653T>G	GRCh37
NC_000006.10:g.111735346T>G	NCBI36
NG_053000.1:g.181266A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9163A>C (REV3L) MANE Select	ENSP00000357792.3:p.Ser3055Arg
ENST00000666581.2:n.277+29292T>G (MFSD4B)
ENST00000673245.1:n.273+11675T>G (MFSD4B)
ENST00000673446.1:n.179+39613T>G (MFSD4B)
ENST00000358835.7:c.9163A>C (REV3L)	ENSP00000351697.3:p.Ser3055Arg
ENST00000368802.7:c.9163A>C (REV3L)	ENSP00000357792.3:p.Ser3055Arg
ENST00000368805.5:c.9163A>C (REV3L)	ENSP00000357795.1:p.Ser3055Arg
ENST00000422377.5:c.*9147A>C (REV3L)	ENSP00000393184.1:n.*9147A>C
ENST00000434009.5:c.*9254A>C (REV3L)	ENSP00000391605.1:n.*9254A>C
ENST00000435970.5:c.8929A>C (REV3L)	ENSP00000402003.1:p.Ser2977Arg
ENST00000462119.5:n.1300A>C (REV3L)
NM_001286431.1:c.8929A>C (REV3L)	NP_001273360.1:p.Ser2977Arg
NM_001286432.1:c.8929A>C (REV3L)	NP_001273361.1:p.Ser2977Arg
NM_002912.4:c.9163A>C (REV3L)	NP_002903.3:p.Ser3055Arg
XM_006715543.2:c.9163A>C (REV3L)	XP_006715606.1:p.Ser3055Arg
XM_006715544.2:c.8929A>C (REV3L)	XP_006715607.1:p.Ser2977Arg
XM_011536028.1:c.9244A>C (REV3L)	XP_011534330.1:p.Ser3082Arg
XM_011536029.1:c.9241A>C (REV3L)	XP_011534331.1:p.Ser3081Arg
XM_011536030.1:c.9166A>C (REV3L)	XP_011534332.1:p.Ser3056Arg
XM_011536031.1:c.9010A>C (REV3L)	XP_011534333.1:p.Ser3004Arg
XM_011536032.1:c.9010A>C (REV3L)	XP_011534334.1:p.Ser3004Arg
XR_942871.1:n.2045+29292T>G
XM_011536028.2:c.9244A>C (REV3L)	XP_011534330.1:p.Ser3082Arg
XM_011536029.3:c.9241A>C (REV3L)	XP_011534331.1:p.Ser3081Arg
XM_011536030.3:c.9166A>C (REV3L)	XP_011534332.1:p.Ser3056Arg
XM_011536031.3:c.9010A>C (REV3L)	XP_011534333.1:p.Ser3004Arg
XM_011536032.2:c.9010A>C (REV3L)	XP_011534334.1:p.Ser3004Arg
XM_017011152.2:c.9007A>C (REV3L)	XP_016866641.1:p.Ser3003Arg
XM_017011153.1:c.9007A>C (REV3L)	XP_016866642.1:p.Ser3003Arg
XM_017011154.1:c.9007A>C (REV3L)	XP_016866643.1:p.Ser3003Arg
XR_001743550.2:n.9349A>C (REV3L)
XR_001743552.2:n.9271A>C (REV3L)
XR_001743553.2:n.9667A>C (REV3L)
XR_001743555.2:n.9589A>C (REV3L)
XR_001743556.2:n.9396A>C (REV3L)
XR_002956293.1:n.10607A>C (REV3L)
NM_001286431.2:c.8929A>C (REV3L)	NP_001273360.1:p.Ser2977Arg
NM_001372078.1:c.9163A>C (REV3L) MANE Select	NP_001359007.1:p.Ser3055Arg
NM_001286432.2:c.8929A>C (REV3L)	NP_001273361.1:p.Ser2977Arg
NM_002912.5:c.9163A>C (REV3L)	NP_002903.3:p.Ser3055Arg