Canonical Allele Identifier: CA3077258

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 663594
• ClinVar RCV Id: RCV000821501 ; RCV001272730
• dbSNP Id: rs769272117
• ExAC: 4:128842751 T / C
• gnomAD v2: 4-128842751-T-C
• gnomAD v4: 4-127921596-T-C
• COSMIC: COSM4918005
• MyVariant Identifiers: chr4:g.128842751T>C (hg19) ; chr4:g.127921596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921596T>C , CM000666.2:g.127921596T>C	GRCh38
NC_000004.11:g.128842751T>C , CM000666.1:g.128842751T>C	GRCh37
NC_000004.10:g.129062201T>C	NCBI36
NG_008657.1:g.49389A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1278A>G	ENSP00000296468.3:p.Ile426Met
ENST00000509826.2:c.*599A>G	ENSP00000421176.2:n.*599A>G
ENST00000513559.6:c.996A>G	ENSP00000425000.2:p.Ile332Met
ENST00000515130.6:c.*163A>G	ENSP00000493056.1:n.*163A>G
ENST00000641025.1:c.*163A>G	ENSP00000493346.1:n.*163A>G
ENST00000641092.1:c.*163A>G	ENSP00000493392.1:n.*163A>G
ENST00000641133.1:c.*592A>G	ENSP00000493192.1:n.*592A>G
ENST00000641146.1:n.1144A>G
ENST00000641147.1:c.828A>G	ENSP00000493133.1:p.Ile276Met
ENST00000641178.1:c.1143A>G	ENSP00000492989.1:p.Ile381Met
ENST00000641186.1:c.1164A>G	ENSP00000493347.1:p.Ile388Met
ENST00000641228.1:c.*163A>G	ENSP00000493194.1:n.*163A>G
ENST00000641332.1:c.*339A>G	ENSP00000493397.1:n.*339A>G
ENST00000641340.1:c.*407A>G	ENSP00000493191.1:n.*407A>G
ENST00000641388.1:n.525A>G
ENST00000641393.1:c.828A>G	ENSP00000493197.1:p.Ile276Met
ENST00000641397.1:c.*163A>G	ENSP00000493406.1:n.*163A>G
ENST00000641413.1:c.203A>G
ENST00000641434.1:c.1278A>G	ENSP00000493279.1:p.Ile426Met
ENST00000641464.1:c.*511A>G	ENSP00000493438.1:n.*511A>G
ENST00000641482.1:c.*163A>G	ENSP00000493277.1:n.*163A>G
ENST00000641508.1:c.*511A>G	ENSP00000493209.1:n.*511A>G
ENST00000641509.1:c.963A>G	ENSP00000493459.1:p.Ile321Met
ENST00000641590.1:c.*163A>G	ENSP00000493132.1:n.*163A>G
ENST00000641658.1:c.*443A>G	ENSP00000492987.1:n.*443A>G
ENST00000641686.2:c.1278A>G MANE Select	ENSP00000493218.2:p.Ile426Met
ENST00000641690.1:c.1077A>G	ENSP00000492966.1:p.Ile359Met
ENST00000641742.1:c.*443A>G	ENSP00000493315.1:n.*443A>G
ENST00000641748.1:c.1278A>G	ENSP00000493330.1:p.Ile426Met
ENST00000641753.1:c.1105A>G
ENST00000641774.1:c.*530A>G	ENSP00000492960.1:n.*530A>G
ENST00000641830.1:c.510A>G
ENST00000641843.1:c.*339A>G	ENSP00000493174.1:n.*339A>G
ENST00000641869.1:c.479A>G
ENST00000641870.1:c.*339A>G	ENSP00000493044.1:n.*339A>G
ENST00000641882.1:c.*443A>G	ENSP00000493301.1:n.*443A>G
ENST00000641928.1:c.*407A>G	ENSP00000493418.1:n.*407A>G
ENST00000641949.1:c.554-760A>G	ENSP00000492891.1:n.554-760A>G
ENST00000642012.1:n.1142A>G
ENST00000642034.1:c.*163A>G	ENSP00000493285.1:n.*163A>G
ENST00000642042.1:c.1278A>G	ENSP00000493260.1:p.Ile426Met
ENST00000642078.1:c.*339A>G	ENSP00000492885.1:n.*339A>G
ENST00000296468.7:c.1278A>G	ENSP00000296468.3:p.Ile426Met
ENST00000504126.1:n.306A>G
ENST00000513559.5:c.1143A>G	ENSP00000425000.1:p.Ile381Met
ENST00000515130.5:n.1620A>G
NM_152778.2:c.1278A>G	NP_689991.1:p.Ile426Met
XM_005262893.1:c.1278A>G	XP_005262950.1:p.Ile426Met
XM_005262896.1:c.1131A>G	XP_005262953.1:p.Ile377Met
XM_005262897.1:c.1077A>G	XP_005262954.1:p.Ile359Met
XM_005262898.2:c.*163A>G	XP_005262955.1:n.*163A>G
XM_011531830.1:c.1164A>G	XP_011530132.1:p.Ile388Met
XM_011531831.1:c.963A>G	XP_011530133.1:p.Ile321Met
XM_011531832.1:c.*163A>G	XP_011530134.1:n.*163A>G
XR_938717.1:n.1355A>G
NM_001363520.1:c.1077A>G	NP_001350449.1:p.Ile359Met
NM_001363521.1:c.963A>G	NP_001350450.1:p.Ile321Met
XM_005262898.3:c.*163A>G	XP_005262955.1:n.*163A>G
XM_017007989.1:c.*163A>G	XP_016863478.1:n.*163A>G
XM_024453981.1:c.1143A>G	XP_024309749.1:p.Ile381Met
XM_024453982.1:c.1029A>G	XP_024309750.1:p.Ile343Met
XM_024453983.1:c.828A>G	XP_024309751.1:p.Ile276Met
XR_001741194.1:n.1251A>G
XR_001741195.1:n.1137A>G
XR_001741196.1:n.1050A>G
XR_001741197.1:n.1210A>G
XR_001741198.2:n.1106A>G
XR_001741199.1:n.1106A>G
XR_938717.2:n.1355A>G
NM_001363520.2:c.1077A>G	NP_001350449.1:p.Ile359Met
NM_001363521.2:c.963A>G	NP_001350450.1:p.Ile321Met
NM_001371590.1:c.1143A>G	NP_001358519.1:p.Ile381Met
NM_001371591.1:c.1278A>G	NP_001358520.1:p.Ile426Met
NM_001371592.1:c.1284A>G	NP_001358521.1:p.Ile428Met
NM_001371593.1:c.1164A>G	NP_001358522.1:p.Ile388Met
NM_001371594.1:c.1131A>G	NP_001358523.1:p.Ile377Met
NM_001371595.1:c.996A>G	NP_001358524.1:p.Ile332Met
NM_001371596.2:c.1278A>G MANE Select	NP_001358525.1:p.Ile426Met
NM_152778.3:c.1278A>G	NP_689991.1:p.Ile426Met
NM_152778.4:c.1278A>G	NP_689991.1:p.Ile426Met