Canonical Allele Identifier: CA1492804094
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921598T= , CM000666.2:g.127921598T= GRCh38
NC_000004.11:g.128842753T= , CM000666.1:g.128842753T= GRCh37
NC_000004.10:g.129062203T= NCBI36
NG_008657.1:g.49387A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1276A= ENSP00000296468.3:p.Ile426=
ENST00000509826.2:c.*597A= ENSP00000421176.2:n.*597A=
ENST00000513559.6:c.994A= ENSP00000425000.2:p.Ile332=
ENST00000515130.6:c.*161A= ENSP00000493056.1:n.*161A=
ENST00000641025.1:c.*161A= ENSP00000493346.1:n.*161A=
ENST00000641092.1:c.*161A= ENSP00000493392.1:n.*161A=
ENST00000641133.1:c.*590A= ENSP00000493192.1:n.*590A=
ENST00000641146.1:n.1142A=
ENST00000641147.1:c.826A= ENSP00000493133.1:p.Ile276=
ENST00000641178.1:c.1141A= ENSP00000492989.1:p.Ile381=
ENST00000641186.1:c.1162A= ENSP00000493347.1:p.Ile388=
ENST00000641228.1:c.*161A= ENSP00000493194.1:n.*161A=
ENST00000641332.1:c.*337A= ENSP00000493397.1:n.*337A=
ENST00000641340.1:c.*405A= ENSP00000493191.1:n.*405A=
ENST00000641388.1:n.523A=
ENST00000641393.1:c.826A= ENSP00000493197.1:p.Ile276=
ENST00000641397.1:c.*161A= ENSP00000493406.1:n.*161A=
ENST00000641413.1:c.201A=
ENST00000641434.1:c.1276A= ENSP00000493279.1:p.Ile426=
ENST00000641464.1:c.*509A= ENSP00000493438.1:n.*509A=
ENST00000641482.1:c.*161A= ENSP00000493277.1:n.*161A=
ENST00000641508.1:c.*509A= ENSP00000493209.1:n.*509A=
ENST00000641509.1:c.961A= ENSP00000493459.1:p.Ile321=
ENST00000641590.1:c.*161A= ENSP00000493132.1:n.*161A=
ENST00000641658.1:c.*441A= ENSP00000492987.1:n.*441A=
ENST00000641686.2:c.1276A= MANE Select ENSP00000493218.2:p.Ile426=
ENST00000641690.1:c.1075A= ENSP00000492966.1:p.Ile359=
ENST00000641742.1:c.*441A= ENSP00000493315.1:n.*441A=
ENST00000641748.1:c.1276A= ENSP00000493330.1:p.Ile426=
ENST00000641753.1:c.1103A=
ENST00000641774.1:c.*528A= ENSP00000492960.1:n.*528A=
ENST00000641830.1:c.508A=
ENST00000641843.1:c.*337A= ENSP00000493174.1:n.*337A=
ENST00000641869.1:c.477A=
ENST00000641870.1:c.*337A= ENSP00000493044.1:n.*337A=
ENST00000641882.1:c.*441A= ENSP00000493301.1:n.*441A=
ENST00000641928.1:c.*405A= ENSP00000493418.1:n.*405A=
ENST00000641949.1:c.554-762A= ENSP00000492891.1:n.554-762A=
ENST00000642012.1:n.1140A=
ENST00000642034.1:c.*161A= ENSP00000493285.1:n.*161A=
ENST00000642042.1:c.1276A= ENSP00000493260.1:p.Ile426=
ENST00000642078.1:c.*337A= ENSP00000492885.1:n.*337A=
ENST00000296468.7:c.1276A= ENSP00000296468.3:p.Ile426=
ENST00000504126.1:n.304A=
ENST00000513559.5:c.1141A= ENSP00000425000.1:p.Ile381=
ENST00000515130.5:n.1618A=
NM_152778.2:c.1276A= NP_689991.1:p.Ile426=
XM_005262893.1:c.1276A= XP_005262950.1:p.Ile426=
XM_005262896.1:c.1129A= XP_005262953.1:p.Ile377=
XM_005262897.1:c.1075A= XP_005262954.1:p.Ile359=
XM_005262898.2:c.*161A= XP_005262955.1:n.*161A=
XM_011531830.1:c.1162A= XP_011530132.1:p.Ile388=
XM_011531831.1:c.961A= XP_011530133.1:p.Ile321=
XM_011531832.1:c.*161A= XP_011530134.1:n.*161A=
XR_938717.1:n.1353A=
NM_001363520.1:c.1075A= NP_001350449.1:p.Ile359=
NM_001363521.1:c.961A= NP_001350450.1:p.Ile321=
XM_005262898.3:c.*161A= XP_005262955.1:n.*161A=
XM_017007989.1:c.*161A= XP_016863478.1:n.*161A=
XM_024453981.1:c.1141A= XP_024309749.1:p.Ile381=
XM_024453982.1:c.1027A= XP_024309750.1:p.Ile343=
XM_024453983.1:c.826A= XP_024309751.1:p.Ile276=
XR_001741194.1:n.1249A=
XR_001741195.1:n.1135A=
XR_001741196.1:n.1048A=
XR_001741197.1:n.1208A=
XR_001741198.2:n.1104A=
XR_001741199.1:n.1104A=
XR_938717.2:n.1353A=
NM_001363520.2:c.1075A= NP_001350449.1:p.Ile359=
NM_001363521.2:c.961A= NP_001350450.1:p.Ile321=
NM_001371590.1:c.1141A= NP_001358519.1:p.Ile381=
NM_001371591.1:c.1276A= NP_001358520.1:p.Ile426=
NM_001371592.1:c.1282A= NP_001358521.1:p.Ile428=
NM_001371593.1:c.1162A= NP_001358522.1:p.Ile388=
NM_001371594.1:c.1129A= NP_001358523.1:p.Ile377=
NM_001371595.1:c.994A= NP_001358524.1:p.Ile332=
NM_001371596.2:c.1276A= MANE Select NP_001358525.1:p.Ile426=
NM_152778.3:c.1276A= NP_689991.1:p.Ile426=
NM_152778.4:c.1276A= NP_689991.1:p.Ile426=