Canonical Allele Identifier: CA358171416
Gene: MFSD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921739A>C , CM000666.2:g.127921739A>C GRCh38
NC_000004.11:g.128842894A>C , CM000666.1:g.128842894A>C GRCh37
NC_000004.10:g.129062344A>C NCBI36
NG_008657.1:g.49246T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1135T>G ENSP00000296468.3:p.Phe379Val
ENST00000509826.2:c.*456T>G ENSP00000421176.2:n.*456T>G
ENST00000513559.6:c.853T>G ENSP00000425000.2:p.Phe285Val
ENST00000515130.6:c.*20T>G ENSP00000493056.1:n.*20T>G
ENST00000641025.1:c.*20T>G ENSP00000493346.1:n.*20T>G
ENST00000641092.1:c.*20T>G ENSP00000493392.1:n.*20T>G
ENST00000641133.1:c.*449T>G ENSP00000493192.1:n.*449T>G
ENST00000641146.1:n.1001T>G
ENST00000641147.1:c.685T>G ENSP00000493133.1:p.Phe229Val
ENST00000641178.1:c.1000T>G ENSP00000492989.1:p.Phe334Val
ENST00000641186.1:c.1021T>G ENSP00000493347.1:p.Phe341Val
ENST00000641228.1:c.*20T>G ENSP00000493194.1:n.*20T>G
ENST00000641332.1:c.*196T>G ENSP00000493397.1:n.*196T>G
ENST00000641340.1:c.*264T>G ENSP00000493191.1:n.*264T>G
ENST00000641388.1:n.382T>G
ENST00000641393.1:c.685T>G ENSP00000493197.1:p.Phe229Val
ENST00000641397.1:c.*20T>G ENSP00000493406.1:n.*20T>G
ENST00000641413.1:c.60T>G
ENST00000641434.1:c.1135T>G ENSP00000493279.1:p.Phe379Val
ENST00000641464.1:c.*368T>G ENSP00000493438.1:n.*368T>G
ENST00000641482.1:c.*20T>G ENSP00000493277.1:n.*20T>G
ENST00000641508.1:c.*368T>G ENSP00000493209.1:n.*368T>G
ENST00000641509.1:c.820T>G ENSP00000493459.1:p.Phe274Val
ENST00000641590.1:c.*20T>G ENSP00000493132.1:n.*20T>G
ENST00000641658.1:c.*300T>G ENSP00000492987.1:n.*300T>G
ENST00000641686.2:c.1135T>G MANE Select ENSP00000493218.2:p.Phe379Val
ENST00000641690.1:c.934T>G ENSP00000492966.1:p.Phe312Val
ENST00000641742.1:c.*300T>G ENSP00000493315.1:n.*300T>G
ENST00000641748.1:c.1135T>G ENSP00000493330.1:p.Phe379Val
ENST00000641753.1:c.962T>G
ENST00000641774.1:c.*387T>G ENSP00000492960.1:n.*387T>G
ENST00000641830.1:c.367T>G
ENST00000641843.1:c.*196T>G ENSP00000493174.1:n.*196T>G
ENST00000641869.1:c.336T>G
ENST00000641870.1:c.*196T>G ENSP00000493044.1:n.*196T>G
ENST00000641882.1:c.*300T>G ENSP00000493301.1:n.*300T>G
ENST00000641928.1:c.*264T>G ENSP00000493418.1:n.*264T>G
ENST00000641949.1:c.554-903T>G ENSP00000492891.1:n.554-903T>G
ENST00000642012.1:n.999T>G
ENST00000642034.1:c.*20T>G ENSP00000493285.1:n.*20T>G
ENST00000642042.1:c.1135T>G ENSP00000493260.1:p.Phe379Val
ENST00000642078.1:c.*196T>G ENSP00000492885.1:n.*196T>G
ENST00000296468.7:c.1135T>G ENSP00000296468.3:p.Phe379Val
ENST00000504126.1:n.163T>G
ENST00000505284.5:n.926T>G
ENST00000513559.5:c.1000T>G ENSP00000425000.1:p.Phe334Val
ENST00000515130.5:n.1477T>G
NM_152778.2:c.1135T>G NP_689991.1:p.Phe379Val
XM_005262893.1:c.1135T>G XP_005262950.1:p.Phe379Val
XM_005262896.1:c.988T>G XP_005262953.1:p.Phe330Val
XM_005262897.1:c.934T>G XP_005262954.1:p.Phe312Val
XM_005262898.2:c.*20T>G XP_005262955.1:n.*20T>G
XM_011531830.1:c.1021T>G XP_011530132.1:p.Phe341Val
XM_011531831.1:c.820T>G XP_011530133.1:p.Phe274Val
XM_011531832.1:c.*20T>G XP_011530134.1:n.*20T>G
XR_938717.1:n.1212T>G
NM_001363520.1:c.934T>G NP_001350449.1:p.Phe312Val
NM_001363521.1:c.820T>G NP_001350450.1:p.Phe274Val
XM_005262898.3:c.*20T>G XP_005262955.1:n.*20T>G
XM_017007989.1:c.*20T>G XP_016863478.1:n.*20T>G
XM_024453981.1:c.1000T>G XP_024309749.1:p.Phe334Val
XM_024453982.1:c.886T>G XP_024309750.1:p.Phe296Val
XM_024453983.1:c.685T>G XP_024309751.1:p.Phe229Val
XR_001741194.1:n.1108T>G
XR_001741195.1:n.994T>G
XR_001741196.1:n.907T>G
XR_001741197.1:n.1067T>G
XR_001741198.2:n.963T>G
XR_001741199.1:n.963T>G
XR_938717.2:n.1212T>G
NM_001363520.2:c.934T>G NP_001350449.1:p.Phe312Val
NM_001363521.2:c.820T>G NP_001350450.1:p.Phe274Val
NM_001371590.1:c.1000T>G NP_001358519.1:p.Phe334Val
NM_001371591.1:c.1135T>G NP_001358520.1:p.Phe379Val
NM_001371592.1:c.1141T>G NP_001358521.1:p.Phe381Val
NM_001371593.1:c.1021T>G NP_001358522.1:p.Phe341Val
NM_001371594.1:c.988T>G NP_001358523.1:p.Phe330Val
NM_001371595.1:c.853T>G NP_001358524.1:p.Phe285Val
NM_001371596.2:c.1135T>G MANE Select NP_001358525.1:p.Phe379Val
NM_152778.3:c.1135T>G NP_689991.1:p.Phe379Val
NM_152778.4:c.1135T>G NP_689991.1:p.Phe379Val