Canonical Allele Identifier: CA358170711

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128841914A>T (hg19) ; chr4:g.127920759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920759A>T , CM000666.2:g.127920759A>T	GRCh38
NC_000004.11:g.128841914A>T , CM000666.1:g.128841914A>T	GRCh37
NC_000004.10:g.129061364A>T	NCBI36
NG_008657.1:g.50226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1428T>A	ENSP00000296468.3:p.Tyr476Ter
ENST00000509826.2:c.*749T>A	ENSP00000421176.2:n.*749T>A
ENST00000513559.6:c.1146T>A	ENSP00000425000.2:p.Tyr382Ter
ENST00000515130.6:c.*313T>A	ENSP00000493056.1:n.*313T>A
ENST00000641025.1:c.*313T>A	ENSP00000493346.1:n.*313T>A
ENST00000641092.1:c.*313T>A	ENSP00000493392.1:n.*313T>A
ENST00000641133.1:c.*1429T>A	ENSP00000493192.1:n.*1429T>A
ENST00000641146.1:n.1981T>A
ENST00000641147.1:c.978T>A	ENSP00000493133.1:p.Tyr326Ter
ENST00000641178.1:c.1293T>A	ENSP00000492989.1:p.Tyr431Ter
ENST00000641186.1:c.1314T>A	ENSP00000493347.1:p.Tyr438Ter
ENST00000641228.1:c.*1000T>A	ENSP00000493194.1:n.*1000T>A
ENST00000641332.1:c.*570T>A	ENSP00000493397.1:n.*570T>A
ENST00000641340.1:c.*1244T>A	ENSP00000493191.1:n.*1244T>A
ENST00000641388.1:n.675T>A
ENST00000641393.1:c.978T>A	ENSP00000493197.1:p.Tyr326Ter
ENST00000641397.1:c.*313T>A	ENSP00000493406.1:n.*313T>A
ENST00000641413.1:c.353T>A
ENST00000641434.1:c.1428T>A	ENSP00000493279.1:p.Tyr476Ter
ENST00000641464.1:c.*661T>A	ENSP00000493438.1:n.*661T>A
ENST00000641482.1:c.*1000T>A	ENSP00000493277.1:n.*1000T>A
ENST00000641508.1:c.*661T>A	ENSP00000493209.1:n.*661T>A
ENST00000641509.1:c.1113T>A	ENSP00000493459.1:p.Tyr371Ter
ENST00000641590.1:c.*1000T>A	ENSP00000493132.1:n.*1000T>A
ENST00000641658.1:c.*593T>A	ENSP00000492987.1:n.*593T>A
ENST00000641686.2:c.1428T>A MANE Select	ENSP00000493218.2:p.Tyr476Ter
ENST00000641690.1:c.1227T>A	ENSP00000492966.1:p.Tyr409Ter
ENST00000641742.1:c.*593T>A	ENSP00000493315.1:n.*593T>A
ENST00000641748.1:c.1428T>A	ENSP00000493330.1:p.Tyr476Ter
ENST00000641753.1:c.1255T>A
ENST00000641774.1:c.*680T>A	ENSP00000492960.1:n.*680T>A
ENST00000641843.1:c.*489T>A	ENSP00000493174.1:n.*489T>A
ENST00000641869.1:c.629T>A
ENST00000641870.1:c.*1176T>A	ENSP00000493044.1:n.*1176T>A
ENST00000641882.1:c.*593T>A	ENSP00000493301.1:n.*593T>A
ENST00000641928.1:c.*557T>A	ENSP00000493418.1:n.*557T>A
ENST00000641949.1:c.631T>A	ENSP00000492891.1:p.Cys211Ser
ENST00000642012.1:n.1292T>A
ENST00000642034.1:c.*313T>A	ENSP00000493285.1:n.*313T>A
ENST00000642042.1:c.*747T>A	ENSP00000493260.1:n.*747T>A
ENST00000642078.1:c.*489T>A	ENSP00000492885.1:n.*489T>A
ENST00000296468.7:c.1428T>A	ENSP00000296468.3:p.Tyr476Ter
ENST00000513559.5:c.1293T>A	ENSP00000425000.1:p.Tyr431Ter
ENST00000515130.5:n.1770T>A
NM_152778.2:c.1428T>A	NP_689991.1:p.Tyr476Ter
XM_005262893.1:c.1428T>A	XP_005262950.1:p.Tyr476Ter
XM_005262896.1:c.1281T>A	XP_005262953.1:p.Tyr427Ter
XM_005262897.1:c.1227T>A	XP_005262954.1:p.Tyr409Ter
XM_005262898.2:c.*1000T>A	XP_005262955.1:n.*1000T>A
XM_011531830.1:c.1314T>A	XP_011530132.1:p.Tyr438Ter
XM_011531831.1:c.1113T>A	XP_011530133.1:p.Tyr371Ter
XM_011531832.1:c.*1000T>A	XP_011530134.1:n.*1000T>A
XR_938717.1:n.1911T>A
NM_001363520.1:c.1227T>A	NP_001350449.1:p.Tyr409Ter
NM_001363521.1:c.1113T>A	NP_001350450.1:p.Tyr371Ter
XM_005262898.3:c.*1000T>A	XP_005262955.1:n.*1000T>A
XM_017007989.1:c.*1000T>A	XP_016863478.1:n.*1000T>A
XM_024453981.1:c.1293T>A	XP_024309749.1:p.Tyr431Ter
XM_024453982.1:c.1179T>A	XP_024309750.1:p.Tyr393Ter
XM_024453983.1:c.978T>A	XP_024309751.1:p.Tyr326Ter
XR_001741194.1:n.1401T>A
XR_001741195.1:n.1287T>A
XR_001741196.1:n.1200T>A
XR_001741197.1:n.2047T>A
XR_001741198.2:n.1943T>A
XR_001741199.1:n.1256T>A
XR_938717.2:n.1911T>A
NM_001363520.2:c.1227T>A	NP_001350449.1:p.Tyr409Ter
NM_001363521.2:c.1113T>A	NP_001350450.1:p.Tyr371Ter
NM_001371590.1:c.1293T>A	NP_001358519.1:p.Tyr431Ter
NM_001371591.1:c.1437T>A	NP_001358520.1:p.Tyr479Ter
NM_001371592.1:c.1434T>A	NP_001358521.1:p.Tyr478Ter
NM_001371593.1:c.1314T>A	NP_001358522.1:p.Tyr438Ter
NM_001371594.1:c.1281T>A	NP_001358523.1:p.Tyr427Ter
NM_001371595.1:c.1146T>A	NP_001358524.1:p.Tyr382Ter
NM_001371596.2:c.1428T>A MANE Select	NP_001358525.1:p.Tyr476Ter
NM_152778.3:c.1428T>A	NP_689991.1:p.Tyr476Ter
NM_152778.4:c.1428T>A	NP_689991.1:p.Tyr476Ter