Canonical Allele Identifier: CA358170834

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128841972A>T (hg19) ; chr4:g.127920817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920817A>T , CM000666.2:g.127920817A>T	GRCh38
NC_000004.11:g.128841972A>T , CM000666.1:g.128841972A>T	GRCh37
NC_000004.10:g.129061422A>T	NCBI36
NG_008657.1:g.50168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1370T>A	ENSP00000296468.3:p.Leu457Ter
ENST00000509826.2:c.*691T>A	ENSP00000421176.2:n.*691T>A
ENST00000513559.6:c.1088T>A	ENSP00000425000.2:p.Leu363Ter
ENST00000515130.6:c.*255T>A	ENSP00000493056.1:n.*255T>A
ENST00000641025.1:c.*255T>A	ENSP00000493346.1:n.*255T>A
ENST00000641092.1:c.*255T>A	ENSP00000493392.1:n.*255T>A
ENST00000641133.1:c.*1371T>A	ENSP00000493192.1:n.*1371T>A
ENST00000641146.1:n.1923T>A
ENST00000641147.1:c.920T>A	ENSP00000493133.1:p.Leu307Ter
ENST00000641178.1:c.1235T>A	ENSP00000492989.1:p.Leu412Ter
ENST00000641186.1:c.1256T>A	ENSP00000493347.1:p.Leu419Ter
ENST00000641228.1:c.*942T>A	ENSP00000493194.1:n.*942T>A
ENST00000641332.1:c.*512T>A	ENSP00000493397.1:n.*512T>A
ENST00000641340.1:c.*1186T>A	ENSP00000493191.1:n.*1186T>A
ENST00000641388.1:n.617T>A
ENST00000641393.1:c.920T>A	ENSP00000493197.1:p.Leu307Ter
ENST00000641397.1:c.*255T>A	ENSP00000493406.1:n.*255T>A
ENST00000641413.1:c.295T>A
ENST00000641434.1:c.1370T>A	ENSP00000493279.1:p.Leu457Ter
ENST00000641464.1:c.*603T>A	ENSP00000493438.1:n.*603T>A
ENST00000641482.1:c.*942T>A	ENSP00000493277.1:n.*942T>A
ENST00000641508.1:c.*603T>A	ENSP00000493209.1:n.*603T>A
ENST00000641509.1:c.1055T>A	ENSP00000493459.1:p.Leu352Ter
ENST00000641590.1:c.*942T>A	ENSP00000493132.1:n.*942T>A
ENST00000641658.1:c.*535T>A	ENSP00000492987.1:n.*535T>A
ENST00000641686.2:c.1370T>A MANE Select	ENSP00000493218.2:p.Leu457Ter
ENST00000641690.1:c.1169T>A	ENSP00000492966.1:p.Leu390Ter
ENST00000641742.1:c.*535T>A	ENSP00000493315.1:n.*535T>A
ENST00000641748.1:c.1370T>A	ENSP00000493330.1:p.Leu457Ter
ENST00000641753.1:c.1197T>A
ENST00000641774.1:c.*622T>A	ENSP00000492960.1:n.*622T>A
ENST00000641843.1:c.*431T>A	ENSP00000493174.1:n.*431T>A
ENST00000641869.1:c.571T>A
ENST00000641870.1:c.*1118T>A	ENSP00000493044.1:n.*1118T>A
ENST00000641882.1:c.*535T>A	ENSP00000493301.1:n.*535T>A
ENST00000641928.1:c.*499T>A	ENSP00000493418.1:n.*499T>A
ENST00000641949.1:c.573T>A	ENSP00000492891.1:p.Val191=
ENST00000642012.1:n.1234T>A
ENST00000642034.1:c.*255T>A	ENSP00000493285.1:n.*255T>A
ENST00000642042.1:c.*689T>A	ENSP00000493260.1:n.*689T>A
ENST00000642078.1:c.*431T>A	ENSP00000492885.1:n.*431T>A
ENST00000296468.7:c.1370T>A	ENSP00000296468.3:p.Leu457Ter
ENST00000513559.5:c.1235T>A	ENSP00000425000.1:p.Leu412Ter
ENST00000515130.5:n.1712T>A
NM_152778.2:c.1370T>A	NP_689991.1:p.Leu457Ter
XM_005262893.1:c.1370T>A	XP_005262950.1:p.Leu457Ter
XM_005262896.1:c.1223T>A	XP_005262953.1:p.Leu408Ter
XM_005262897.1:c.1169T>A	XP_005262954.1:p.Leu390Ter
XM_005262898.2:c.*942T>A	XP_005262955.1:n.*942T>A
XM_011531830.1:c.1256T>A	XP_011530132.1:p.Leu419Ter
XM_011531831.1:c.1055T>A	XP_011530133.1:p.Leu352Ter
XM_011531832.1:c.*942T>A	XP_011530134.1:n.*942T>A
XR_938717.1:n.1853T>A
NM_001363520.1:c.1169T>A	NP_001350449.1:p.Leu390Ter
NM_001363521.1:c.1055T>A	NP_001350450.1:p.Leu352Ter
XM_005262898.3:c.*942T>A	XP_005262955.1:n.*942T>A
XM_017007989.1:c.*942T>A	XP_016863478.1:n.*942T>A
XM_024453981.1:c.1235T>A	XP_024309749.1:p.Leu412Ter
XM_024453982.1:c.1121T>A	XP_024309750.1:p.Leu374Ter
XM_024453983.1:c.920T>A	XP_024309751.1:p.Leu307Ter
XR_001741194.1:n.1343T>A
XR_001741195.1:n.1229T>A
XR_001741196.1:n.1142T>A
XR_001741197.1:n.1989T>A
XR_001741198.2:n.1885T>A
XR_001741199.1:n.1198T>A
XR_938717.2:n.1853T>A
NM_001363520.2:c.1169T>A	NP_001350449.1:p.Leu390Ter
NM_001363521.2:c.1055T>A	NP_001350450.1:p.Leu352Ter
NM_001371590.1:c.1235T>A	NP_001358519.1:p.Leu412Ter
NM_001371591.1:c.1379T>A	NP_001358520.1:p.Leu460Ter
NM_001371592.1:c.1376T>A	NP_001358521.1:p.Leu459Ter
NM_001371593.1:c.1256T>A	NP_001358522.1:p.Leu419Ter
NM_001371594.1:c.1223T>A	NP_001358523.1:p.Leu408Ter
NM_001371595.1:c.1088T>A	NP_001358524.1:p.Leu363Ter
NM_001371596.2:c.1370T>A MANE Select	NP_001358525.1:p.Leu457Ter
NM_152778.3:c.1370T>A	NP_689991.1:p.Leu457Ter
NM_152778.4:c.1370T>A	NP_689991.1:p.Leu457Ter