Canonical Allele Identifier: CA251664
Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005
dbSNP Id: rs267607235

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127921639G>A , CM000666.2:g.127921639G>A GRCh38
NC_000004.11:g.128842794G>A , CM000666.1:g.128842794G>A GRCh37
NC_000004.10:g.129062244G>A NCBI36
NG_008657.1:g.49346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296468.8:c.1235C>T ENSP00000296468.3:p.Pro412Leu
ENST00000509826.2:c.*556C>T ENSP00000421176.2:n.*556C>T
ENST00000513559.6:c.953C>T ENSP00000425000.2:p.Pro318Leu
ENST00000515130.6:c.*120C>T ENSP00000493056.1:n.*120C>T
ENST00000641025.1:c.*120C>T ENSP00000493346.1:n.*120C>T
ENST00000641092.1:c.*120C>T ENSP00000493392.1:n.*120C>T
ENST00000641133.1:c.*549C>T ENSP00000493192.1:n.*549C>T
ENST00000641146.1:n.1101C>T
ENST00000641147.1:c.785C>T ENSP00000493133.1:p.Pro262Leu
ENST00000641178.1:c.1100C>T ENSP00000492989.1:p.Pro367Leu
ENST00000641186.1:c.1121C>T ENSP00000493347.1:p.Pro374Leu
ENST00000641228.1:c.*120C>T ENSP00000493194.1:n.*120C>T
ENST00000641332.1:c.*296C>T ENSP00000493397.1:n.*296C>T
ENST00000641340.1:c.*364C>T ENSP00000493191.1:n.*364C>T
ENST00000641388.1:n.482C>T
ENST00000641393.1:c.785C>T ENSP00000493197.1:p.Pro262Leu
ENST00000641397.1:c.*120C>T ENSP00000493406.1:n.*120C>T
ENST00000641413.1:c.160C>T
ENST00000641434.1:c.1235C>T ENSP00000493279.1:p.Pro412Leu
ENST00000641464.1:c.*468C>T ENSP00000493438.1:n.*468C>T
ENST00000641482.1:c.*120C>T ENSP00000493277.1:n.*120C>T
ENST00000641508.1:c.*468C>T ENSP00000493209.1:n.*468C>T
ENST00000641509.1:c.920C>T ENSP00000493459.1:p.Pro307Leu
ENST00000641590.1:c.*120C>T ENSP00000493132.1:n.*120C>T
ENST00000641658.1:c.*400C>T ENSP00000492987.1:n.*400C>T
ENST00000641686.2:c.1235C>T MANE Select ENSP00000493218.2:p.Pro412Leu
ENST00000641690.1:c.1034C>T ENSP00000492966.1:p.Pro345Leu
ENST00000641742.1:c.*400C>T ENSP00000493315.1:n.*400C>T
ENST00000641748.1:c.1235C>T ENSP00000493330.1:p.Pro412Leu
ENST00000641753.1:c.1062C>T
ENST00000641774.1:c.*487C>T ENSP00000492960.1:n.*487C>T
ENST00000641830.1:c.467C>T
ENST00000641843.1:c.*296C>T ENSP00000493174.1:n.*296C>T
ENST00000641869.1:c.436C>T
ENST00000641870.1:c.*296C>T ENSP00000493044.1:n.*296C>T
ENST00000641882.1:c.*400C>T ENSP00000493301.1:n.*400C>T
ENST00000641928.1:c.*364C>T ENSP00000493418.1:n.*364C>T
ENST00000641949.1:c.554-803C>T ENSP00000492891.1:n.554-803C>T
ENST00000642012.1:n.1099C>T
ENST00000642034.1:c.*120C>T ENSP00000493285.1:n.*120C>T
ENST00000642042.1:c.1235C>T ENSP00000493260.1:p.Pro412Leu
ENST00000642078.1:c.*296C>T ENSP00000492885.1:n.*296C>T
ENST00000296468.7:c.1235C>T ENSP00000296468.3:p.Pro412Leu
ENST00000504126.1:n.263C>T
ENST00000513559.5:c.1100C>T ENSP00000425000.1:p.Pro367Leu
ENST00000515130.5:n.1577C>T
NM_152778.2:c.1235C>T NP_689991.1:p.Pro412Leu
XM_005262893.1:c.1235C>T XP_005262950.1:p.Pro412Leu
XM_005262896.1:c.1088C>T XP_005262953.1:p.Pro363Leu
XM_005262897.1:c.1034C>T XP_005262954.1:p.Pro345Leu
XM_005262898.2:c.*120C>T XP_005262955.1:n.*120C>T
XM_011531830.1:c.1121C>T XP_011530132.1:p.Pro374Leu
XM_011531831.1:c.920C>T XP_011530133.1:p.Pro307Leu
XM_011531832.1:c.*120C>T XP_011530134.1:n.*120C>T
XR_938717.1:n.1312C>T
NM_001363520.1:c.1034C>T NP_001350449.1:p.Pro345Leu
NM_001363521.1:c.920C>T NP_001350450.1:p.Pro307Leu
XM_005262898.3:c.*120C>T XP_005262955.1:n.*120C>T
XM_017007989.1:c.*120C>T XP_016863478.1:n.*120C>T
XM_024453981.1:c.1100C>T XP_024309749.1:p.Pro367Leu
XM_024453982.1:c.986C>T XP_024309750.1:p.Pro329Leu
XM_024453983.1:c.785C>T XP_024309751.1:p.Pro262Leu
XR_001741194.1:n.1208C>T
XR_001741195.1:n.1094C>T
XR_001741196.1:n.1007C>T
XR_001741197.1:n.1167C>T
XR_001741198.2:n.1063C>T
XR_001741199.1:n.1063C>T
XR_938717.2:n.1312C>T
NM_001363520.2:c.1034C>T NP_001350449.1:p.Pro345Leu
NM_001363521.2:c.920C>T NP_001350450.1:p.Pro307Leu
NM_001371590.1:c.1100C>T NP_001358519.1:p.Pro367Leu
NM_001371591.1:c.1235C>T NP_001358520.1:p.Pro412Leu
NM_001371592.1:c.1241C>T NP_001358521.1:p.Pro414Leu
NM_001371593.1:c.1121C>T NP_001358522.1:p.Pro374Leu
NM_001371594.1:c.1088C>T NP_001358523.1:p.Pro363Leu
NM_001371595.1:c.953C>T NP_001358524.1:p.Pro318Leu
NM_001371596.2:c.1235C>T MANE Select NP_001358525.1:p.Pro412Leu
NM_152778.3:c.1235C>T NP_689991.1:p.Pro412Leu
NM_152778.4:c.1235C>T NP_689991.1:p.Pro412Leu