Canonical Allele Identifier: CA358171361

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128842868C>T (hg19) ; chr4:g.127921713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921713C>T , CM000666.2:g.127921713C>T	GRCh38
NC_000004.11:g.128842868C>T , CM000666.1:g.128842868C>T	GRCh37
NC_000004.10:g.129062318C>T	NCBI36
NG_008657.1:g.49272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1161G>A	ENSP00000296468.3:p.Trp387Ter
ENST00000509826.2:c.*482G>A	ENSP00000421176.2:n.*482G>A
ENST00000513559.6:c.879G>A	ENSP00000425000.2:p.Trp293Ter
ENST00000515130.6:c.*46G>A	ENSP00000493056.1:n.*46G>A
ENST00000641025.1:c.*46G>A	ENSP00000493346.1:n.*46G>A
ENST00000641092.1:c.*46G>A	ENSP00000493392.1:n.*46G>A
ENST00000641133.1:c.*475G>A	ENSP00000493192.1:n.*475G>A
ENST00000641146.1:n.1027G>A
ENST00000641147.1:c.711G>A	ENSP00000493133.1:p.Trp237Ter
ENST00000641178.1:c.1026G>A	ENSP00000492989.1:p.Trp342Ter
ENST00000641186.1:c.1047G>A	ENSP00000493347.1:p.Trp349Ter
ENST00000641228.1:c.*46G>A	ENSP00000493194.1:n.*46G>A
ENST00000641332.1:c.*222G>A	ENSP00000493397.1:n.*222G>A
ENST00000641340.1:c.*290G>A	ENSP00000493191.1:n.*290G>A
ENST00000641388.1:n.408G>A
ENST00000641393.1:c.711G>A	ENSP00000493197.1:p.Trp237Ter
ENST00000641397.1:c.*46G>A	ENSP00000493406.1:n.*46G>A
ENST00000641413.1:c.86G>A
ENST00000641434.1:c.1161G>A	ENSP00000493279.1:p.Trp387Ter
ENST00000641464.1:c.*394G>A	ENSP00000493438.1:n.*394G>A
ENST00000641482.1:c.*46G>A	ENSP00000493277.1:n.*46G>A
ENST00000641508.1:c.*394G>A	ENSP00000493209.1:n.*394G>A
ENST00000641509.1:c.846G>A	ENSP00000493459.1:p.Trp282Ter
ENST00000641590.1:c.*46G>A	ENSP00000493132.1:n.*46G>A
ENST00000641658.1:c.*326G>A	ENSP00000492987.1:n.*326G>A
ENST00000641686.2:c.1161G>A MANE Select	ENSP00000493218.2:p.Trp387Ter
ENST00000641690.1:c.960G>A	ENSP00000492966.1:p.Trp320Ter
ENST00000641742.1:c.*326G>A	ENSP00000493315.1:n.*326G>A
ENST00000641748.1:c.1161G>A	ENSP00000493330.1:p.Trp387Ter
ENST00000641753.1:c.988G>A
ENST00000641774.1:c.*413G>A	ENSP00000492960.1:n.*413G>A
ENST00000641830.1:c.393G>A
ENST00000641843.1:c.*222G>A	ENSP00000493174.1:n.*222G>A
ENST00000641869.1:c.362G>A
ENST00000641870.1:c.*222G>A	ENSP00000493044.1:n.*222G>A
ENST00000641882.1:c.*326G>A	ENSP00000493301.1:n.*326G>A
ENST00000641928.1:c.*290G>A	ENSP00000493418.1:n.*290G>A
ENST00000641949.1:c.554-877G>A	ENSP00000492891.1:n.554-877G>A
ENST00000642012.1:n.1025G>A
ENST00000642034.1:c.*46G>A	ENSP00000493285.1:n.*46G>A
ENST00000642042.1:c.1161G>A	ENSP00000493260.1:p.Trp387Ter
ENST00000642078.1:c.*222G>A	ENSP00000492885.1:n.*222G>A
ENST00000296468.7:c.1161G>A	ENSP00000296468.3:p.Trp387Ter
ENST00000504126.1:n.189G>A
ENST00000513559.5:c.1026G>A	ENSP00000425000.1:p.Trp342Ter
ENST00000515130.5:n.1503G>A
NM_152778.2:c.1161G>A	NP_689991.1:p.Trp387Ter
XM_005262893.1:c.1161G>A	XP_005262950.1:p.Trp387Ter
XM_005262896.1:c.1014G>A	XP_005262953.1:p.Trp338Ter
XM_005262897.1:c.960G>A	XP_005262954.1:p.Trp320Ter
XM_005262898.2:c.*46G>A	XP_005262955.1:n.*46G>A
XM_011531830.1:c.1047G>A	XP_011530132.1:p.Trp349Ter
XM_011531831.1:c.846G>A	XP_011530133.1:p.Trp282Ter
XM_011531832.1:c.*46G>A	XP_011530134.1:n.*46G>A
XR_938717.1:n.1238G>A
NM_001363520.1:c.960G>A	NP_001350449.1:p.Trp320Ter
NM_001363521.1:c.846G>A	NP_001350450.1:p.Trp282Ter
XM_005262898.3:c.*46G>A	XP_005262955.1:n.*46G>A
XM_017007989.1:c.*46G>A	XP_016863478.1:n.*46G>A
XM_024453981.1:c.1026G>A	XP_024309749.1:p.Trp342Ter
XM_024453982.1:c.912G>A	XP_024309750.1:p.Trp304Ter
XM_024453983.1:c.711G>A	XP_024309751.1:p.Trp237Ter
XR_001741194.1:n.1134G>A
XR_001741195.1:n.1020G>A
XR_001741196.1:n.933G>A
XR_001741197.1:n.1093G>A
XR_001741198.2:n.989G>A
XR_001741199.1:n.989G>A
XR_938717.2:n.1238G>A
NM_001363520.2:c.960G>A	NP_001350449.1:p.Trp320Ter
NM_001363521.2:c.846G>A	NP_001350450.1:p.Trp282Ter
NM_001371590.1:c.1026G>A	NP_001358519.1:p.Trp342Ter
NM_001371591.1:c.1161G>A	NP_001358520.1:p.Trp387Ter
NM_001371592.1:c.1167G>A	NP_001358521.1:p.Trp389Ter
NM_001371593.1:c.1047G>A	NP_001358522.1:p.Trp349Ter
NM_001371594.1:c.1014G>A	NP_001358523.1:p.Trp338Ter
NM_001371595.1:c.879G>A	NP_001358524.1:p.Trp293Ter
NM_001371596.2:c.1161G>A MANE Select	NP_001358525.1:p.Trp387Ter
NM_152778.3:c.1161G>A	NP_689991.1:p.Trp387Ter
NM_152778.4:c.1161G>A	NP_689991.1:p.Trp387Ter