Canonical Allele Identifier: CA365359659

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs1327591220
• gnomAD v2: 6-111726697-T-G
• gnomAD v4: 6-111405494-T-G
• MyVariant Identifiers: chr6:g.111726697T>G (hg19) ; chr6:g.111405494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111405494T>G , CM000668.2:g.111405494T>G	GRCh38
NC_000006.11:g.111726697T>G , CM000668.1:g.111726697T>G	GRCh37
NC_000006.10:g.111833390T>G	NCBI36
NG_053000.1:g.83222A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.541A>C (REV3L) MANE Select	ENSP00000357792.3:p.Lys181Gln
ENST00000673446.1:n.248-35209T>G (MFSD4B)
ENST00000358835.7:c.541A>C (REV3L)	ENSP00000351697.3:p.Lys181Gln
ENST00000368802.7:c.541A>C (REV3L)	ENSP00000357792.3:p.Lys181Gln
ENST00000368805.5:c.541A>C (REV3L)	ENSP00000357795.1:p.Lys181Gln
ENST00000422377.5:c.*525A>C (REV3L)	ENSP00000393184.1:n.*525A>C
ENST00000434009.5:c.*632A>C (REV3L)	ENSP00000391605.1:n.*632A>C
ENST00000435970.5:c.307A>C (REV3L)	ENSP00000402003.1:p.Lys103Gln
ENST00000460981.1:n.139A>C (REV3L)
ENST00000494858.1:n.214A>C (REV3L)
NM_001286431.1:c.307A>C (REV3L)	NP_001273360.1:p.Lys103Gln
NM_001286432.1:c.307A>C (REV3L)	NP_001273361.1:p.Lys103Gln
NM_002912.4:c.541A>C (REV3L)	NP_002903.3:p.Lys181Gln
XM_006715543.2:c.541A>C (REV3L)	XP_006715606.1:p.Lys181Gln
XM_006715544.2:c.307A>C (REV3L)	XP_006715607.1:p.Lys103Gln
XM_011536028.1:c.541A>C (REV3L)	XP_011534330.1:p.Lys181Gln
XM_011536029.1:c.541A>C (REV3L)	XP_011534331.1:p.Lys181Gln
XM_011536030.1:c.541A>C (REV3L)	XP_011534332.1:p.Lys181Gln
XM_011536031.1:c.307A>C (REV3L)	XP_011534333.1:p.Lys103Gln
XM_011536032.1:c.307A>C (REV3L)	XP_011534334.1:p.Lys103Gln
XM_011536033.1:c.541A>C (REV3L)	XP_011534335.1:p.Lys181Gln
XM_011536034.1:c.541A>C (REV3L)	XP_011534336.1:p.Lys181Gln
XM_011536035.1:c.541A>C (REV3L)	XP_011534337.1:p.Lys181Gln
XM_011536036.1:c.541A>C (REV3L)	XP_011534338.1:p.Lys181Gln
XR_942545.1:n.1090A>C (REV3L)
XR_942546.1:n.1090A>C (REV3L)
XM_011536028.2:c.541A>C (REV3L)	XP_011534330.1:p.Lys181Gln
XM_011536029.3:c.541A>C (REV3L)	XP_011534331.1:p.Lys181Gln
XM_011536030.3:c.541A>C (REV3L)	XP_011534332.1:p.Lys181Gln
XM_011536031.3:c.307A>C (REV3L)	XP_011534333.1:p.Lys103Gln
XM_011536032.2:c.307A>C (REV3L)	XP_011534334.1:p.Lys103Gln
XM_011536036.3:c.541A>C (REV3L)	XP_011534338.1:p.Lys181Gln
XM_017011152.2:c.307A>C (REV3L)	XP_016866641.1:p.Lys103Gln
XM_017011153.1:c.307A>C (REV3L)	XP_016866642.1:p.Lys103Gln
XM_017011154.1:c.307A>C (REV3L)	XP_016866643.1:p.Lys103Gln
XM_017011155.2:c.541A>C (REV3L)	XP_016866644.1:p.Lys181Gln
XR_001743550.2:n.837A>C (REV3L)
XR_001743552.2:n.837A>C (REV3L)
XR_001743553.2:n.837A>C (REV3L)
XR_001743554.2:n.837A>C (REV3L)
XR_001743555.2:n.837A>C (REV3L)
XR_001743556.2:n.837A>C (REV3L)
XR_002956293.1:n.837A>C (REV3L)
NM_001286431.2:c.307A>C (REV3L)	NP_001273360.1:p.Lys103Gln
NM_001372078.1:c.541A>C (REV3L) MANE Select	NP_001359007.1:p.Lys181Gln
NM_001286432.2:c.307A>C (REV3L)	NP_001273361.1:p.Lys103Gln
NM_002912.5:c.541A>C (REV3L)	NP_002903.3:p.Lys181Gln