Canonical Allele Identifier: CA2680019544

Gene: REV3L MFSD4B

Linked Data

• gnomAD v4: 6-111307239-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307239T>G , CM000668.2:g.111307239T>G	GRCh38
NC_000006.11:g.111628442T>G , CM000668.1:g.111628442T>G	GRCh37
NC_000006.10:g.111735135T>G	NCBI36
NG_053000.1:g.181477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368802.8:c.9252+122A>C (REV3L) MANE Select	ENSP00000357792.3:n.9252+122A>C
ENST00000666581.2:n.277+29081T>G (MFSD4B)
ENST00000673245.1:n.273+11464T>G (MFSD4B)
ENST00000673446.1:n.179+39402T>G (MFSD4B)
ENST00000358835.7:c.9252+122A>C (REV3L)	ENSP00000351697.3:n.9252+122A>C
ENST00000368802.7:c.9252+122A>C (REV3L)	ENSP00000357792.3:n.9252+122A>C
ENST00000368805.5:c.9252+122A>C (REV3L)	ENSP00000357795.1:n.9252+122A>C
ENST00000422377.5:c.*9236+122A>C (REV3L)	ENSP00000393184.1:n.*9236+122A>C
ENST00000434009.5:c.*9343+122A>C (REV3L)	ENSP00000391605.1:n.*9343+122A>C
ENST00000435970.5:c.9018+122A>C (REV3L)	ENSP00000402003.1:n.9018+122A>C
ENST00000462119.5:n.1389+122A>C (REV3L)
NM_001286431.1:c.9018+122A>C (REV3L)	NP_001273360.1:n.9018+122A>C
NM_001286432.1:c.9018+122A>C (REV3L)	NP_001273361.1:n.9018+122A>C
NM_002912.4:c.9252+122A>C (REV3L)	NP_002903.3:n.9252+122A>C
XM_006715543.2:c.9252+122A>C (REV3L)	XP_006715606.1:n.9252+122A>C
XM_006715544.2:c.9018+122A>C (REV3L)	XP_006715607.1:n.9018+122A>C
XM_011536028.1:c.9333+122A>C (REV3L)	XP_011534330.1:n.9333+122A>C
XM_011536029.1:c.9330+122A>C (REV3L)	XP_011534331.1:n.9330+122A>C
XM_011536030.1:c.9255+122A>C (REV3L)	XP_011534332.1:n.9255+122A>C
XM_011536031.1:c.9099+122A>C (REV3L)	XP_011534333.1:n.9099+122A>C
XM_011536032.1:c.9099+122A>C (REV3L)	XP_011534334.1:n.9099+122A>C
XR_942871.1:n.2045+29081T>G
XM_011536028.2:c.9333+122A>C (REV3L)	XP_011534330.1:n.9333+122A>C
XM_011536029.3:c.9330+122A>C (REV3L)	XP_011534331.1:n.9330+122A>C
XM_011536030.3:c.9255+122A>C (REV3L)	XP_011534332.1:n.9255+122A>C
XM_011536031.3:c.9099+122A>C (REV3L)	XP_011534333.1:n.9099+122A>C
XM_011536032.2:c.9099+122A>C (REV3L)	XP_011534334.1:n.9099+122A>C
XM_017011152.2:c.9096+122A>C (REV3L)	XP_016866641.1:n.9096+122A>C
XM_017011153.1:c.9096+122A>C (REV3L)	XP_016866642.1:n.9096+122A>C
XM_017011154.1:c.9096+122A>C (REV3L)	XP_016866643.1:n.9096+122A>C
XR_001743550.2:n.9438+122A>C (REV3L)
XR_001743552.2:n.9360+122A>C (REV3L)
XR_001743553.2:n.9756+122A>C (REV3L)
XR_001743555.2:n.9678+122A>C (REV3L)
XR_001743556.2:n.9485+122A>C (REV3L)
XR_002956293.1:n.10696+122A>C (REV3L)
NM_001286431.2:c.9018+122A>C (REV3L)	NP_001273360.1:n.9018+122A>C
NM_001372078.1:c.9252+122A>C (REV3L) MANE Select	NP_001359007.1:n.9252+122A>C
NM_001286432.2:c.9018+122A>C (REV3L)	NP_001273361.1:n.9018+122A>C
NM_002912.5:c.9252+122A>C (REV3L)	NP_002903.3:n.9252+122A>C