Canonical Allele Identifier: CA3961072

Gene: REV3L MFSD4B

Linked Data

• dbSNP Id: rs747541411
• ExAC: 6:111628557 A / C
• gnomAD v2: 6-111628557-A-C
• gnomAD v3: 6-111307354-A-C
• gnomAD v4: 6-111307354-A-C
• MyVariant Identifiers: chr6:g.111628557A>C (hg19) ; chr6:g.111307354A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111307354A>C , CM000668.2:g.111307354A>C	GRCh38
NC_000006.11:g.111628557A>C , CM000668.1:g.111628557A>C	GRCh37
NC_000006.10:g.111735250A>C	NCBI36
NG_053000.1:g.181362T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368802.8:c.9252+7T>G (REV3L) MANE Select	ENSP00000357792.3:n.9252+7T>G
ENST00000666581.2:n.277+29196A>C (MFSD4B)
ENST00000673245.1:n.273+11579A>C (MFSD4B)
ENST00000673446.1:n.179+39517A>C (MFSD4B)
ENST00000358835.7:c.9252+7T>G (REV3L)	ENSP00000351697.3:n.9252+7T>G
ENST00000368802.7:c.9252+7T>G (REV3L)	ENSP00000357792.3:n.9252+7T>G
ENST00000368805.5:c.9252+7T>G (REV3L)	ENSP00000357795.1:n.9252+7T>G
ENST00000422377.5:c.*9236+7T>G (REV3L)	ENSP00000393184.1:n.*9236+7T>G
ENST00000434009.5:c.*9343+7T>G (REV3L)	ENSP00000391605.1:n.*9343+7T>G
ENST00000435970.5:c.9018+7T>G (REV3L)	ENSP00000402003.1:n.9018+7T>G
ENST00000462119.5:n.1389+7T>G (REV3L)
NM_001286431.1:c.9018+7T>G (REV3L)	NP_001273360.1:n.9018+7T>G
NM_001286432.1:c.9018+7T>G (REV3L)	NP_001273361.1:n.9018+7T>G
NM_002912.4:c.9252+7T>G (REV3L)	NP_002903.3:n.9252+7T>G
XM_006715543.2:c.9252+7T>G (REV3L)	XP_006715606.1:n.9252+7T>G
XM_006715544.2:c.9018+7T>G (REV3L)	XP_006715607.1:n.9018+7T>G
XM_011536028.1:c.9333+7T>G (REV3L)	XP_011534330.1:n.9333+7T>G
XM_011536029.1:c.9330+7T>G (REV3L)	XP_011534331.1:n.9330+7T>G
XM_011536030.1:c.9255+7T>G (REV3L)	XP_011534332.1:n.9255+7T>G
XM_011536031.1:c.9099+7T>G (REV3L)	XP_011534333.1:n.9099+7T>G
XM_011536032.1:c.9099+7T>G (REV3L)	XP_011534334.1:n.9099+7T>G
XR_942871.1:n.2045+29196A>C
XM_011536028.2:c.9333+7T>G (REV3L)	XP_011534330.1:n.9333+7T>G
XM_011536029.3:c.9330+7T>G (REV3L)	XP_011534331.1:n.9330+7T>G
XM_011536030.3:c.9255+7T>G (REV3L)	XP_011534332.1:n.9255+7T>G
XM_011536031.3:c.9099+7T>G (REV3L)	XP_011534333.1:n.9099+7T>G
XM_011536032.2:c.9099+7T>G (REV3L)	XP_011534334.1:n.9099+7T>G
XM_017011152.2:c.9096+7T>G (REV3L)	XP_016866641.1:n.9096+7T>G
XM_017011153.1:c.9096+7T>G (REV3L)	XP_016866642.1:n.9096+7T>G
XM_017011154.1:c.9096+7T>G (REV3L)	XP_016866643.1:n.9096+7T>G
XR_001743550.2:n.9438+7T>G (REV3L)
XR_001743552.2:n.9360+7T>G (REV3L)
XR_001743553.2:n.9756+7T>G (REV3L)
XR_001743555.2:n.9678+7T>G (REV3L)
XR_001743556.2:n.9485+7T>G (REV3L)
XR_002956293.1:n.10696+7T>G (REV3L)
NM_001286431.2:c.9018+7T>G (REV3L)	NP_001273360.1:n.9018+7T>G
NM_001372078.1:c.9252+7T>G (REV3L) MANE Select	NP_001359007.1:n.9252+7T>G
NM_001286432.2:c.9018+7T>G (REV3L)	NP_001273361.1:n.9018+7T>G
NM_002912.5:c.9252+7T>G (REV3L)	NP_002903.3:n.9252+7T>G