Canonical Allele Identifier: CA358171051

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128842731C>T (hg19) ; chr4:g.127921576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921576C>T , CM000666.2:g.127921576C>T	GRCh38
NC_000004.11:g.128842731C>T , CM000666.1:g.128842731C>T	GRCh37
NC_000004.10:g.129062181C>T	NCBI36
NG_008657.1:g.49409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1298G>A	ENSP00000296468.3:p.Cys433Tyr
ENST00000509826.2:c.*619G>A	ENSP00000421176.2:n.*619G>A
ENST00000513559.6:c.1016G>A	ENSP00000425000.2:p.Cys339Tyr
ENST00000515130.6:c.*183G>A	ENSP00000493056.1:n.*183G>A
ENST00000641025.1:c.*183G>A	ENSP00000493346.1:n.*183G>A
ENST00000641092.1:c.*183G>A	ENSP00000493392.1:n.*183G>A
ENST00000641133.1:c.*612G>A	ENSP00000493192.1:n.*612G>A
ENST00000641146.1:n.1164G>A
ENST00000641147.1:c.848G>A	ENSP00000493133.1:p.Cys283Tyr
ENST00000641178.1:c.1163G>A	ENSP00000492989.1:p.Cys388Tyr
ENST00000641186.1:c.1184G>A	ENSP00000493347.1:p.Cys395Tyr
ENST00000641228.1:c.*183G>A	ENSP00000493194.1:n.*183G>A
ENST00000641332.1:c.*359G>A	ENSP00000493397.1:n.*359G>A
ENST00000641340.1:c.*427G>A	ENSP00000493191.1:n.*427G>A
ENST00000641388.1:n.545G>A
ENST00000641393.1:c.848G>A	ENSP00000493197.1:p.Cys283Tyr
ENST00000641397.1:c.*183G>A	ENSP00000493406.1:n.*183G>A
ENST00000641413.1:c.223G>A
ENST00000641434.1:c.1298G>A	ENSP00000493279.1:p.Cys433Tyr
ENST00000641464.1:c.*531G>A	ENSP00000493438.1:n.*531G>A
ENST00000641482.1:c.*183G>A	ENSP00000493277.1:n.*183G>A
ENST00000641508.1:c.*531G>A	ENSP00000493209.1:n.*531G>A
ENST00000641509.1:c.983G>A	ENSP00000493459.1:p.Cys328Tyr
ENST00000641590.1:c.*183G>A	ENSP00000493132.1:n.*183G>A
ENST00000641658.1:c.*463G>A	ENSP00000492987.1:n.*463G>A
ENST00000641686.2:c.1298G>A MANE Select	ENSP00000493218.2:p.Cys433Tyr
ENST00000641690.1:c.1097G>A	ENSP00000492966.1:p.Cys366Tyr
ENST00000641742.1:c.*463G>A	ENSP00000493315.1:n.*463G>A
ENST00000641748.1:c.1298G>A	ENSP00000493330.1:p.Cys433Tyr
ENST00000641753.1:c.1125G>A
ENST00000641774.1:c.*550G>A	ENSP00000492960.1:n.*550G>A
ENST00000641830.1:c.530G>A
ENST00000641843.1:c.*359G>A	ENSP00000493174.1:n.*359G>A
ENST00000641869.1:c.499G>A
ENST00000641870.1:c.*359G>A	ENSP00000493044.1:n.*359G>A
ENST00000641882.1:c.*463G>A	ENSP00000493301.1:n.*463G>A
ENST00000641928.1:c.*427G>A	ENSP00000493418.1:n.*427G>A
ENST00000641949.1:c.554-740G>A	ENSP00000492891.1:n.554-740G>A
ENST00000642012.1:n.1162G>A
ENST00000642034.1:c.*183G>A	ENSP00000493285.1:n.*183G>A
ENST00000642042.1:c.1298G>A	ENSP00000493260.1:p.Cys433Tyr
ENST00000642078.1:c.*359G>A	ENSP00000492885.1:n.*359G>A
ENST00000296468.7:c.1298G>A	ENSP00000296468.3:p.Cys433Tyr
ENST00000504126.1:n.326G>A
ENST00000513559.5:c.1163G>A	ENSP00000425000.1:p.Cys388Tyr
ENST00000515130.5:n.1640G>A
NM_152778.2:c.1298G>A	NP_689991.1:p.Cys433Tyr
XM_005262893.1:c.1298G>A	XP_005262950.1:p.Cys433Tyr
XM_005262896.1:c.1151G>A	XP_005262953.1:p.Cys384Tyr
XM_005262897.1:c.1097G>A	XP_005262954.1:p.Cys366Tyr
XM_005262898.2:c.*183G>A	XP_005262955.1:n.*183G>A
XM_011531830.1:c.1184G>A	XP_011530132.1:p.Cys395Tyr
XM_011531831.1:c.983G>A	XP_011530133.1:p.Cys328Tyr
XM_011531832.1:c.*183G>A	XP_011530134.1:n.*183G>A
XR_938717.1:n.1375G>A
NM_001363520.1:c.1097G>A	NP_001350449.1:p.Cys366Tyr
NM_001363521.1:c.983G>A	NP_001350450.1:p.Cys328Tyr
XM_005262898.3:c.*183G>A	XP_005262955.1:n.*183G>A
XM_017007989.1:c.*183G>A	XP_016863478.1:n.*183G>A
XM_024453981.1:c.1163G>A	XP_024309749.1:p.Cys388Tyr
XM_024453982.1:c.1049G>A	XP_024309750.1:p.Cys350Tyr
XM_024453983.1:c.848G>A	XP_024309751.1:p.Cys283Tyr
XR_001741194.1:n.1271G>A
XR_001741195.1:n.1157G>A
XR_001741196.1:n.1070G>A
XR_001741197.1:n.1230G>A
XR_001741198.2:n.1126G>A
XR_001741199.1:n.1126G>A
XR_938717.2:n.1375G>A
NM_001363520.2:c.1097G>A	NP_001350449.1:p.Cys366Tyr
NM_001363521.2:c.983G>A	NP_001350450.1:p.Cys328Tyr
NM_001371590.1:c.1163G>A	NP_001358519.1:p.Cys388Tyr
NM_001371591.1:c.1298G>A	NP_001358520.1:p.Cys433Tyr
NM_001371592.1:c.1304G>A	NP_001358521.1:p.Cys435Tyr
NM_001371593.1:c.1184G>A	NP_001358522.1:p.Cys395Tyr
NM_001371594.1:c.1151G>A	NP_001358523.1:p.Cys384Tyr
NM_001371595.1:c.1016G>A	NP_001358524.1:p.Cys339Tyr
NM_001371596.2:c.1298G>A MANE Select	NP_001358525.1:p.Cys433Tyr
NM_152778.3:c.1298G>A	NP_689991.1:p.Cys433Tyr
NM_152778.4:c.1298G>A	NP_689991.1:p.Cys433Tyr