Canonical Allele Identifier: CA1492804543
Gene: MFSD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921923C= , CM000666.2:g.127921923C= GRCh38
NC_000004.11:g.128843078C= , CM000666.1:g.128843078C= GRCh37
NC_000004.10:g.129062528C= NCBI36
NG_008657.1:g.49062G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1039G= ENSP00000296468.3:p.Val347=
ENST00000509826.2:c.*272G= ENSP00000421176.2:n.*272G=
ENST00000513559.6:c.757G= ENSP00000425000.2:p.Val253=
ENST00000515130.6:c.864-152G= ENSP00000493056.1:n.864-152G=
ENST00000641025.1:c.999-152G= ENSP00000493346.1:n.999-152G=
ENST00000641092.1:c.798-152G= ENSP00000493392.1:n.798-152G=
ENST00000641133.1:c.*353G= ENSP00000493192.1:n.*353G=
ENST00000641146.1:n.905G=
ENST00000641147.1:c.589G= ENSP00000493133.1:p.Val197=
ENST00000641178.1:c.904G= ENSP00000492989.1:p.Val302=
ENST00000641186.1:c.925G= ENSP00000493347.1:p.Val309=
ENST00000641228.1:c.798-152G= ENSP00000493194.1:n.798-152G=
ENST00000641332.1:c.*164-152G= ENSP00000493397.1:n.*164-152G=
ENST00000641340.1:c.*232-152G= ENSP00000493191.1:n.*232-152G=
ENST00000641388.1:n.350-152G=
ENST00000641393.1:c.589G= ENSP00000493197.1:p.Val197=
ENST00000641397.1:c.684-152G= ENSP00000493406.1:n.684-152G=
ENST00000641413.1:c.28-152G=
ENST00000641434.1:c.1039G= ENSP00000493279.1:p.Val347=
ENST00000641464.1:c.*272G= ENSP00000493438.1:n.*272G=
ENST00000641482.1:c.999-152G= ENSP00000493277.1:n.999-152G=
ENST00000641508.1:c.*272G= ENSP00000493209.1:n.*272G=
ENST00000641509.1:c.724G= ENSP00000493459.1:p.Val242=
ENST00000641590.1:c.885-152G= ENSP00000493132.1:n.885-152G=
ENST00000641658.1:c.*204G= ENSP00000492987.1:n.*204G=
ENST00000641686.2:c.1039G= MANE Select ENSP00000493218.2:p.Val347=
ENST00000641690.1:c.838G= ENSP00000492966.1:p.Val280=
ENST00000641742.1:c.*204G= ENSP00000493315.1:n.*204G=
ENST00000641748.1:c.1039G= ENSP00000493330.1:p.Val347=
ENST00000641753.1:c.866G=
ENST00000641774.1:c.*291G= ENSP00000492960.1:n.*291G=
ENST00000641830.1:c.335-152G=
ENST00000641843.1:c.*164-152G= ENSP00000493174.1:n.*164-152G=
ENST00000641869.1:c.304-152G=
ENST00000641870.1:c.*164-152G= ENSP00000493044.1:n.*164-152G=
ENST00000641882.1:c.*204G= ENSP00000493301.1:n.*204G=
ENST00000641928.1:c.*232-152G= ENSP00000493418.1:n.*232-152G=
ENST00000641949.1:c.554-1087G= ENSP00000492891.1:n.554-1087G=
ENST00000642012.1:n.903G=
ENST00000642034.1:c.885-152G= ENSP00000493285.1:n.885-152G=
ENST00000642042.1:c.1039G= ENSP00000493260.1:p.Val347=
ENST00000642078.1:c.*164-152G= ENSP00000492885.1:n.*164-152G=
ENST00000296468.7:c.1039G= ENSP00000296468.3:p.Val347=
ENST00000504126.1:n.67G=
ENST00000505284.5:n.894-152G=
ENST00000509826.1:c.*272G= ENSP00000421176.1:n.*272G=
ENST00000513559.5:c.904G= ENSP00000425000.1:p.Val302=
ENST00000515130.5:n.1445-152G=
NM_152778.2:c.1039G= NP_689991.1:p.Val347=
XM_005262893.1:c.1039G= XP_005262950.1:p.Val347=
XM_005262896.1:c.892G= XP_005262953.1:p.Val298=
XM_005262897.1:c.838G= XP_005262954.1:p.Val280=
XM_005262898.2:c.999-152G= XP_005262955.1:n.999-152G=
XM_011531830.1:c.925G= XP_011530132.1:p.Val309=
XM_011531831.1:c.724G= XP_011530133.1:p.Val242=
XM_011531832.1:c.885-152G= XP_011530134.1:n.885-152G=
XR_938717.1:n.1116G=
NM_001363520.1:c.838G= NP_001350449.1:p.Val280=
NM_001363521.1:c.724G= NP_001350450.1:p.Val242=
XM_005262898.3:c.999-152G= XP_005262955.1:n.999-152G=
XM_017007989.1:c.798-152G= XP_016863478.1:n.798-152G=
XM_024453981.1:c.904G= XP_024309749.1:p.Val302=
XM_024453982.1:c.790G= XP_024309750.1:p.Val264=
XM_024453983.1:c.589G= XP_024309751.1:p.Val197=
XR_001741194.1:n.1076-152G=
XR_001741195.1:n.962-152G=
XR_001741196.1:n.875-152G=
XR_001741197.1:n.971G=
XR_001741198.2:n.931-152G=
XR_001741199.1:n.931-152G=
XR_938717.2:n.1116G=
NM_001363520.2:c.838G= NP_001350449.1:p.Val280=
NM_001363521.2:c.724G= NP_001350450.1:p.Val242=
NM_001371590.1:c.904G= NP_001358519.1:p.Val302=
NM_001371591.1:c.1039G= NP_001358520.1:p.Val347=
NM_001371592.1:c.1045G= NP_001358521.1:p.Val349=
NM_001371593.1:c.925G= NP_001358522.1:p.Val309=
NM_001371594.1:c.892G= NP_001358523.1:p.Val298=
NM_001371595.1:c.757G= NP_001358524.1:p.Val253=
NM_001371596.2:c.1039G= MANE Select NP_001358525.1:p.Val347=
NM_152778.3:c.1039G= NP_689991.1:p.Val347=
NM_152778.4:c.1039G= NP_689991.1:p.Val347=