Canonical Allele Identifier: CA207954
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 211495
dbSNP Id: rs556875684

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127930746A>G , CM000666.2:g.127930746A>G GRCh38
NC_000004.11:g.128851901A>G , CM000666.1:g.128851901A>G GRCh37
NC_000004.10:g.129071351A>G NCBI36
NG_008657.1:g.40239T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.935T>C ENSP00000296468.3:p.Ile312Thr
ENST00000509826.2:c.*168T>C ENSP00000421176.2:n.*168T>C
ENST00000513559.6:c.653T>C ENSP00000425000.2:p.Ile218Thr
ENST00000515130.6:c.800T>C ENSP00000493056.1:p.Ile267Thr
ENST00000641003.1:n.325T>C
ENST00000641025.1:c.935T>C ENSP00000493346.1:p.Ile312Thr
ENST00000641092.1:c.734T>C ENSP00000493392.1:p.Ile245Thr
ENST00000641133.1:c.*249T>C ENSP00000493192.1:n.*249T>C
ENST00000641146.1:n.801T>C
ENST00000641147.1:c.485T>C ENSP00000493133.1:p.Ile162Thr
ENST00000641178.1:c.800T>C ENSP00000492989.1:p.Ile267Thr
ENST00000641186.1:c.821T>C ENSP00000493347.1:p.Ile274Thr
ENST00000641228.1:c.734T>C ENSP00000493194.1:p.Ile245Thr
ENST00000641332.1:c.*100T>C ENSP00000493397.1:n.*100T>C
ENST00000641340.1:c.*168T>C ENSP00000493191.1:n.*168T>C
ENST00000641369.1:c.431T>C ENSP00000493037.1:p.Ile144Thr
ENST00000641388.1:n.286T>C
ENST00000641393.1:c.485T>C ENSP00000493197.1:p.Ile162Thr
ENST00000641397.1:c.620T>C ENSP00000493406.1:p.Ile207Thr
ENST00000641434.1:c.935T>C ENSP00000493279.1:p.Ile312Thr
ENST00000641464.1:c.*168T>C ENSP00000493438.1:n.*168T>C
ENST00000641482.1:c.935T>C ENSP00000493277.1:p.Ile312Thr
ENST00000641508.1:c.*168T>C ENSP00000493209.1:n.*168T>C
ENST00000641509.1:c.620T>C ENSP00000493459.1:p.Ile207Thr
ENST00000641538.1:c.709+2239T>C
ENST00000641590.1:c.821T>C ENSP00000493132.1:p.Ile274Thr
ENST00000641658.1:c.*100T>C ENSP00000492987.1:n.*100T>C
ENST00000641686.2:c.935T>C MANE Select ENSP00000493218.2:p.Ile312Thr
ENST00000641690.1:c.734T>C ENSP00000492966.1:p.Ile245Thr
ENST00000641742.1:c.*100T>C ENSP00000493315.1:n.*100T>C
ENST00000641748.1:c.935T>C ENSP00000493330.1:p.Ile312Thr
ENST00000641753.1:c.762T>C
ENST00000641774.1:c.*168T>C ENSP00000492960.1:n.*168T>C
ENST00000641830.1:c.271T>C
ENST00000641843.1:c.*100T>C ENSP00000493174.1:n.*100T>C
ENST00000641869.1:c.240T>C
ENST00000641870.1:c.*100T>C ENSP00000493044.1:n.*100T>C
ENST00000641882.1:c.*100T>C ENSP00000493301.1:n.*100T>C
ENST00000641928.1:c.*168T>C ENSP00000493418.1:n.*168T>C
ENST00000641949.1:c.554-9910T>C ENSP00000492891.1:n.554-9910T>C
ENST00000642012.1:n.799T>C
ENST00000642034.1:c.821T>C ENSP00000493285.1:p.Ile274Thr
ENST00000642042.1:c.935T>C ENSP00000493260.1:p.Ile312Thr
ENST00000642078.1:c.*100T>C ENSP00000492885.1:n.*100T>C
ENST00000642121.1:n.162T>C
ENST00000296468.7:c.935T>C ENSP00000296468.3:p.Ile312Thr
ENST00000505284.5:n.830T>C
ENST00000509826.1:c.*168T>C ENSP00000421176.1:n.*168T>C
ENST00000513559.5:c.800T>C ENSP00000425000.1:p.Ile267Thr
ENST00000515130.5:n.1381T>C
NM_152778.2:c.935T>C NP_689991.1:p.Ile312Thr
XM_005262893.1:c.935T>C XP_005262950.1:p.Ile312Thr
XM_005262896.1:c.788T>C XP_005262953.1:p.Ile263Thr
XM_005262897.1:c.734T>C XP_005262954.1:p.Ile245Thr
XM_005262898.2:c.935T>C XP_005262955.1:p.Ile312Thr
XM_005262900.2:c.*100T>C XP_005262957.1:n.*100T>C
XM_011531830.1:c.821T>C XP_011530132.1:p.Ile274Thr
XM_011531831.1:c.620T>C XP_011530133.1:p.Ile207Thr
XM_011531832.1:c.821T>C XP_011530134.1:p.Ile274Thr
XR_938717.1:n.1012T>C
NM_001363520.1:c.734T>C NP_001350449.1:p.Ile245Thr
NM_001363521.1:c.620T>C NP_001350450.1:p.Ile207Thr
XM_005262898.3:c.935T>C XP_005262955.1:p.Ile312Thr
XM_017007989.1:c.734T>C XP_016863478.1:p.Ile245Thr
XM_024453981.1:c.800T>C XP_024309749.1:p.Ile267Thr
XM_024453982.1:c.686T>C XP_024309750.1:p.Ile229Thr
XM_024453983.1:c.485T>C XP_024309751.1:p.Ile162Thr
XR_001741194.1:n.1012T>C
XR_001741195.1:n.898T>C
XR_001741196.1:n.811T>C
XR_001741197.1:n.867T>C
XR_001741198.2:n.867T>C
XR_001741199.1:n.867T>C
XR_938717.2:n.1012T>C
NM_001363520.2:c.734T>C NP_001350449.1:p.Ile245Thr
NM_001363521.2:c.620T>C NP_001350450.1:p.Ile207Thr
NM_001371590.1:c.800T>C NP_001358519.1:p.Ile267Thr
NM_001371591.1:c.935T>C NP_001358520.1:p.Ile312Thr
NM_001371592.1:c.941T>C NP_001358521.1:p.Ile314Thr
NM_001371593.1:c.821T>C NP_001358522.1:p.Ile274Thr
NM_001371594.1:c.788T>C NP_001358523.1:p.Ile263Thr
NM_001371595.1:c.653T>C NP_001358524.1:p.Ile218Thr
NM_001371596.2:c.935T>C MANE Select NP_001358525.1:p.Ile312Thr
NM_152778.3:c.935T>C NP_689991.1:p.Ile312Thr
NM_152778.4:c.935T>C NP_689991.1:p.Ile312Thr