Canonical Allele Identifier: CA358171831
Gene: MFSD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921900C>A , CM000666.2:g.127921900C>A GRCh38
NC_000004.11:g.128843055C>A , CM000666.1:g.128843055C>A GRCh37
NC_000004.10:g.129062505C>A NCBI36
NG_008657.1:g.49085G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1062G>T ENSP00000296468.3:p.Leu354Phe
ENST00000509826.2:c.*295G>T ENSP00000421176.2:n.*295G>T
ENST00000513559.6:c.780G>T ENSP00000425000.2:p.Leu260Phe
ENST00000515130.6:c.864-129G>T ENSP00000493056.1:n.864-129G>T
ENST00000641025.1:c.999-129G>T ENSP00000493346.1:n.999-129G>T
ENST00000641092.1:c.798-129G>T ENSP00000493392.1:n.798-129G>T
ENST00000641133.1:c.*376G>T ENSP00000493192.1:n.*376G>T
ENST00000641146.1:n.928G>T
ENST00000641147.1:c.612G>T ENSP00000493133.1:p.Leu204Phe
ENST00000641178.1:c.927G>T ENSP00000492989.1:p.Leu309Phe
ENST00000641186.1:c.948G>T ENSP00000493347.1:p.Leu316Phe
ENST00000641228.1:c.798-129G>T ENSP00000493194.1:n.798-129G>T
ENST00000641332.1:c.*164-129G>T ENSP00000493397.1:n.*164-129G>T
ENST00000641340.1:c.*232-129G>T ENSP00000493191.1:n.*232-129G>T
ENST00000641388.1:n.350-129G>T
ENST00000641393.1:c.612G>T ENSP00000493197.1:p.Leu204Phe
ENST00000641397.1:c.684-129G>T ENSP00000493406.1:n.684-129G>T
ENST00000641413.1:c.28-129G>T
ENST00000641434.1:c.1062G>T ENSP00000493279.1:p.Leu354Phe
ENST00000641464.1:c.*295G>T ENSP00000493438.1:n.*295G>T
ENST00000641482.1:c.999-129G>T ENSP00000493277.1:n.999-129G>T
ENST00000641508.1:c.*295G>T ENSP00000493209.1:n.*295G>T
ENST00000641509.1:c.747G>T ENSP00000493459.1:p.Leu249Phe
ENST00000641590.1:c.885-129G>T ENSP00000493132.1:n.885-129G>T
ENST00000641658.1:c.*227G>T ENSP00000492987.1:n.*227G>T
ENST00000641686.2:c.1062G>T MANE Select ENSP00000493218.2:p.Leu354Phe
ENST00000641690.1:c.861G>T ENSP00000492966.1:p.Leu287Phe
ENST00000641742.1:c.*227G>T ENSP00000493315.1:n.*227G>T
ENST00000641748.1:c.1062G>T ENSP00000493330.1:p.Leu354Phe
ENST00000641753.1:c.889G>T
ENST00000641774.1:c.*314G>T ENSP00000492960.1:n.*314G>T
ENST00000641830.1:c.335-129G>T
ENST00000641843.1:c.*164-129G>T ENSP00000493174.1:n.*164-129G>T
ENST00000641869.1:c.304-129G>T
ENST00000641870.1:c.*164-129G>T ENSP00000493044.1:n.*164-129G>T
ENST00000641882.1:c.*227G>T ENSP00000493301.1:n.*227G>T
ENST00000641928.1:c.*232-129G>T ENSP00000493418.1:n.*232-129G>T
ENST00000641949.1:c.554-1064G>T ENSP00000492891.1:n.554-1064G>T
ENST00000642012.1:n.926G>T
ENST00000642034.1:c.885-129G>T ENSP00000493285.1:n.885-129G>T
ENST00000642042.1:c.1062G>T ENSP00000493260.1:p.Leu354Phe
ENST00000642078.1:c.*164-129G>T ENSP00000492885.1:n.*164-129G>T
ENST00000296468.7:c.1062G>T ENSP00000296468.3:p.Leu354Phe
ENST00000504126.1:n.90G>T
ENST00000505284.5:n.894-129G>T
ENST00000509826.1:c.*295G>T ENSP00000421176.1:n.*295G>T
ENST00000513559.5:c.927G>T ENSP00000425000.1:p.Leu309Phe
ENST00000515130.5:n.1445-129G>T
NM_152778.2:c.1062G>T NP_689991.1:p.Leu354Phe
XM_005262893.1:c.1062G>T XP_005262950.1:p.Leu354Phe
XM_005262896.1:c.915G>T XP_005262953.1:p.Leu305Phe
XM_005262897.1:c.861G>T XP_005262954.1:p.Leu287Phe
XM_005262898.2:c.999-129G>T XP_005262955.1:n.999-129G>T
XM_011531830.1:c.948G>T XP_011530132.1:p.Leu316Phe
XM_011531831.1:c.747G>T XP_011530133.1:p.Leu249Phe
XM_011531832.1:c.885-129G>T XP_011530134.1:n.885-129G>T
XR_938717.1:n.1139G>T
NM_001363520.1:c.861G>T NP_001350449.1:p.Leu287Phe
NM_001363521.1:c.747G>T NP_001350450.1:p.Leu249Phe
XM_005262898.3:c.999-129G>T XP_005262955.1:n.999-129G>T
XM_017007989.1:c.798-129G>T XP_016863478.1:n.798-129G>T
XM_024453981.1:c.927G>T XP_024309749.1:p.Leu309Phe
XM_024453982.1:c.813G>T XP_024309750.1:p.Leu271Phe
XM_024453983.1:c.612G>T XP_024309751.1:p.Leu204Phe
XR_001741194.1:n.1076-129G>T
XR_001741195.1:n.962-129G>T
XR_001741196.1:n.875-129G>T
XR_001741197.1:n.994G>T
XR_001741198.2:n.931-129G>T
XR_001741199.1:n.931-129G>T
XR_938717.2:n.1139G>T
NM_001363520.2:c.861G>T NP_001350449.1:p.Leu287Phe
NM_001363521.2:c.747G>T NP_001350450.1:p.Leu249Phe
NM_001371590.1:c.927G>T NP_001358519.1:p.Leu309Phe
NM_001371591.1:c.1062G>T NP_001358520.1:p.Leu354Phe
NM_001371592.1:c.1068G>T NP_001358521.1:p.Leu356Phe
NM_001371593.1:c.948G>T NP_001358522.1:p.Leu316Phe
NM_001371594.1:c.915G>T NP_001358523.1:p.Leu305Phe
NM_001371595.1:c.780G>T NP_001358524.1:p.Leu260Phe
NM_001371596.2:c.1062G>T MANE Select NP_001358525.1:p.Leu354Phe
NM_152778.3:c.1062G>T NP_689991.1:p.Leu354Phe
NM_152778.4:c.1062G>T NP_689991.1:p.Leu354Phe