Canonical Allele Identifier: CA358170692

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128841906C>T (hg19) ; chr4:g.127920751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920751C>T , CM000666.2:g.127920751C>T	GRCh38
NC_000004.11:g.128841906C>T , CM000666.1:g.128841906C>T	GRCh37
NC_000004.10:g.129061356C>T	NCBI36
NG_008657.1:g.50234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1436G>A	ENSP00000296468.3:p.Trp479Ter
ENST00000509826.2:c.*757G>A	ENSP00000421176.2:n.*757G>A
ENST00000513559.6:c.1154G>A	ENSP00000425000.2:p.Trp385Ter
ENST00000515130.6:c.*321G>A	ENSP00000493056.1:n.*321G>A
ENST00000641025.1:c.*321G>A	ENSP00000493346.1:n.*321G>A
ENST00000641092.1:c.*321G>A	ENSP00000493392.1:n.*321G>A
ENST00000641133.1:c.*1437G>A	ENSP00000493192.1:n.*1437G>A
ENST00000641146.1:n.1989G>A
ENST00000641147.1:c.986G>A	ENSP00000493133.1:p.Trp329Ter
ENST00000641178.1:c.1301G>A	ENSP00000492989.1:p.Trp434Ter
ENST00000641186.1:c.1322G>A	ENSP00000493347.1:p.Trp441Ter
ENST00000641228.1:c.*1008G>A	ENSP00000493194.1:n.*1008G>A
ENST00000641332.1:c.*578G>A	ENSP00000493397.1:n.*578G>A
ENST00000641340.1:c.*1252G>A	ENSP00000493191.1:n.*1252G>A
ENST00000641388.1:n.683G>A
ENST00000641393.1:c.986G>A	ENSP00000493197.1:p.Trp329Ter
ENST00000641397.1:c.*321G>A	ENSP00000493406.1:n.*321G>A
ENST00000641413.1:c.361G>A
ENST00000641434.1:c.1436G>A	ENSP00000493279.1:p.Trp479Ter
ENST00000641464.1:c.*669G>A	ENSP00000493438.1:n.*669G>A
ENST00000641482.1:c.*1008G>A	ENSP00000493277.1:n.*1008G>A
ENST00000641508.1:c.*669G>A	ENSP00000493209.1:n.*669G>A
ENST00000641509.1:c.1121G>A	ENSP00000493459.1:p.Trp374Ter
ENST00000641590.1:c.*1008G>A	ENSP00000493132.1:n.*1008G>A
ENST00000641658.1:c.*601G>A	ENSP00000492987.1:n.*601G>A
ENST00000641686.2:c.1436G>A MANE Select	ENSP00000493218.2:p.Trp479Ter
ENST00000641690.1:c.1235G>A	ENSP00000492966.1:p.Trp412Ter
ENST00000641742.1:c.*601G>A	ENSP00000493315.1:n.*601G>A
ENST00000641748.1:c.1436G>A	ENSP00000493330.1:p.Trp479Ter
ENST00000641753.1:c.1263G>A
ENST00000641774.1:c.*688G>A	ENSP00000492960.1:n.*688G>A
ENST00000641843.1:c.*497G>A	ENSP00000493174.1:n.*497G>A
ENST00000641869.1:c.637G>A
ENST00000641870.1:c.*1184G>A	ENSP00000493044.1:n.*1184G>A
ENST00000641882.1:c.*601G>A	ENSP00000493301.1:n.*601G>A
ENST00000641928.1:c.*565G>A	ENSP00000493418.1:n.*565G>A
ENST00000641949.1:c.639G>A	ENSP00000492891.1:p.Leu213=
ENST00000642012.1:n.1300G>A
ENST00000642034.1:c.*321G>A	ENSP00000493285.1:n.*321G>A
ENST00000642042.1:c.*755G>A	ENSP00000493260.1:n.*755G>A
ENST00000642078.1:c.*497G>A	ENSP00000492885.1:n.*497G>A
ENST00000296468.7:c.1436G>A	ENSP00000296468.3:p.Trp479Ter
ENST00000513559.5:c.1301G>A	ENSP00000425000.1:p.Trp434Ter
ENST00000515130.5:n.1778G>A
NM_152778.2:c.1436G>A	NP_689991.1:p.Trp479Ter
XM_005262893.1:c.1436G>A	XP_005262950.1:p.Trp479Ter
XM_005262896.1:c.1289G>A	XP_005262953.1:p.Trp430Ter
XM_005262897.1:c.1235G>A	XP_005262954.1:p.Trp412Ter
XM_005262898.2:c.*1008G>A	XP_005262955.1:n.*1008G>A
XM_011531830.1:c.1322G>A	XP_011530132.1:p.Trp441Ter
XM_011531831.1:c.1121G>A	XP_011530133.1:p.Trp374Ter
XM_011531832.1:c.*1008G>A	XP_011530134.1:n.*1008G>A
XR_938717.1:n.1919G>A
NM_001363520.1:c.1235G>A	NP_001350449.1:p.Trp412Ter
NM_001363521.1:c.1121G>A	NP_001350450.1:p.Trp374Ter
XM_005262898.3:c.*1008G>A	XP_005262955.1:n.*1008G>A
XM_017007989.1:c.*1008G>A	XP_016863478.1:n.*1008G>A
XM_024453981.1:c.1301G>A	XP_024309749.1:p.Trp434Ter
XM_024453982.1:c.1187G>A	XP_024309750.1:p.Trp396Ter
XM_024453983.1:c.986G>A	XP_024309751.1:p.Trp329Ter
XR_001741194.1:n.1409G>A
XR_001741195.1:n.1295G>A
XR_001741196.1:n.1208G>A
XR_001741197.1:n.2055G>A
XR_001741198.2:n.1951G>A
XR_001741199.1:n.1264G>A
NM_001363520.2:c.1235G>A	NP_001350449.1:p.Trp412Ter
NM_001363521.2:c.1121G>A	NP_001350450.1:p.Trp374Ter
NM_001371590.1:c.1301G>A	NP_001358519.1:p.Trp434Ter
NM_001371591.1:c.1445G>A	NP_001358520.1:p.Trp482Ter
NM_001371592.1:c.1442G>A	NP_001358521.1:p.Trp481Ter
NM_001371593.1:c.1322G>A	NP_001358522.1:p.Trp441Ter
NM_001371594.1:c.1289G>A	NP_001358523.1:p.Trp430Ter
NM_001371595.1:c.1154G>A	NP_001358524.1:p.Trp385Ter
NM_001371596.2:c.1436G>A MANE Select	NP_001358525.1:p.Trp479Ter
NM_152778.3:c.1436G>A	NP_689991.1:p.Trp479Ter
NM_152778.4:c.1436G>A	NP_689991.1:p.Trp479Ter