Canonical Allele Identifier: CA365254202

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs1457691070
• gnomAD v2: 6-111628601-A-G
• gnomAD v4: 6-111307398-A-G
• MyVariant Identifiers: chr6:g.111628601A>G (hg19) ; chr6:g.111307398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307398A>G , CM000668.2:g.111307398A>G	GRCh38
NC_000006.11:g.111628601A>G , CM000668.1:g.111628601A>G	GRCh37
NC_000006.10:g.111735294A>G	NCBI36
NG_053000.1:g.181318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9215T>C (REV3L) MANE Select	ENSP00000357792.3:p.Ile3072Thr
ENST00000666581.2:n.277+29240A>G (MFSD4B)
ENST00000673245.1:n.273+11623A>G (MFSD4B)
ENST00000673446.1:n.179+39561A>G (MFSD4B)
ENST00000358835.7:c.9215T>C (REV3L)	ENSP00000351697.3:p.Ile3072Thr
ENST00000368802.7:c.9215T>C (REV3L)	ENSP00000357792.3:p.Ile3072Thr
ENST00000368805.5:c.9215T>C (REV3L)	ENSP00000357795.1:p.Ile3072Thr
ENST00000422377.5:c.*9199T>C (REV3L)	ENSP00000393184.1:n.*9199T>C
ENST00000434009.5:c.*9306T>C (REV3L)	ENSP00000391605.1:n.*9306T>C
ENST00000435970.5:c.8981T>C (REV3L)	ENSP00000402003.1:p.Ile2994Thr
ENST00000462119.5:n.1352T>C (REV3L)
NM_001286431.1:c.8981T>C (REV3L)	NP_001273360.1:p.Ile2994Thr
NM_001286432.1:c.8981T>C (REV3L)	NP_001273361.1:p.Ile2994Thr
NM_002912.4:c.9215T>C (REV3L)	NP_002903.3:p.Ile3072Thr
XM_006715543.2:c.9215T>C (REV3L)	XP_006715606.1:p.Ile3072Thr
XM_006715544.2:c.8981T>C (REV3L)	XP_006715607.1:p.Ile2994Thr
XM_011536028.1:c.9296T>C (REV3L)	XP_011534330.1:p.Ile3099Thr
XM_011536029.1:c.9293T>C (REV3L)	XP_011534331.1:p.Ile3098Thr
XM_011536030.1:c.9218T>C (REV3L)	XP_011534332.1:p.Ile3073Thr
XM_011536031.1:c.9062T>C (REV3L)	XP_011534333.1:p.Ile3021Thr
XM_011536032.1:c.9062T>C (REV3L)	XP_011534334.1:p.Ile3021Thr
XR_942871.1:n.2045+29240A>G
XM_011536028.2:c.9296T>C (REV3L)	XP_011534330.1:p.Ile3099Thr
XM_011536029.3:c.9293T>C (REV3L)	XP_011534331.1:p.Ile3098Thr
XM_011536030.3:c.9218T>C (REV3L)	XP_011534332.1:p.Ile3073Thr
XM_011536031.3:c.9062T>C (REV3L)	XP_011534333.1:p.Ile3021Thr
XM_011536032.2:c.9062T>C (REV3L)	XP_011534334.1:p.Ile3021Thr
XM_017011152.2:c.9059T>C (REV3L)	XP_016866641.1:p.Ile3020Thr
XM_017011153.1:c.9059T>C (REV3L)	XP_016866642.1:p.Ile3020Thr
XM_017011154.1:c.9059T>C (REV3L)	XP_016866643.1:p.Ile3020Thr
XR_001743550.2:n.9401T>C (REV3L)
XR_001743552.2:n.9323T>C (REV3L)
XR_001743553.2:n.9719T>C (REV3L)
XR_001743555.2:n.9641T>C (REV3L)
XR_001743556.2:n.9448T>C (REV3L)
XR_002956293.1:n.10659T>C (REV3L)
NM_001286431.2:c.8981T>C (REV3L)	NP_001273360.1:p.Ile2994Thr
NM_001372078.1:c.9215T>C (REV3L) MANE Select	NP_001359007.1:p.Ile3072Thr
NM_001286432.2:c.8981T>C (REV3L)	NP_001273361.1:p.Ile2994Thr
NM_002912.5:c.9215T>C (REV3L)	NP_002903.3:p.Ile3072Thr