Canonical Allele Identifier: CA358175224

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128859962A>T (hg19) ; chr4:g.127938807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938807A>T , CM000666.2:g.127938807A>T	GRCh38
NC_000004.11:g.128859962A>T , CM000666.1:g.128859962A>T	GRCh37
NC_000004.10:g.129079412A>T	NCBI36
NG_008657.1:g.32178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.730T>A	ENSP00000296468.3:p.Cys244Ser
ENST00000505284.6:n.946T>A
ENST00000509826.2:c.698+1046T>A	ENSP00000421176.2:n.698+1046T>A
ENST00000513559.6:c.448T>A	ENSP00000425000.2:p.Cys150Ser
ENST00000515130.6:c.595T>A	ENSP00000493056.1:p.Cys199Ser
ENST00000641025.1:c.730T>A	ENSP00000493346.1:p.Cys244Ser
ENST00000641092.1:c.553+3238T>A	ENSP00000493392.1:n.553+3238T>A
ENST00000641133.1:c.*44T>A	ENSP00000493192.1:n.*44T>A
ENST00000641134.1:c.450T>A	ENSP00000492925.1:p.Ser150Arg
ENST00000641147.1:c.304+4945T>A	ENSP00000493133.1:n.304+4945T>A
ENST00000641178.1:c.595T>A	ENSP00000492989.1:p.Cys199Ser
ENST00000641186.1:c.616T>A	ENSP00000493347.1:p.Cys206Ser
ENST00000641228.1:c.553+3238T>A	ENSP00000493194.1:n.553+3238T>A
ENST00000641243.1:c.585T>A	ENSP00000493083.1:p.Ser195Arg
ENST00000641264.1:c.*527T>A	ENSP00000492908.1:n.*527T>A
ENST00000641332.1:c.585T>A	ENSP00000493397.1:p.Ser195Arg
ENST00000641340.1:c.698+1046T>A	ENSP00000493191.1:n.698+1046T>A
ENST00000641369.1:c.226T>A	ENSP00000493037.1:p.Cys76Ser
ENST00000641393.1:c.304+4945T>A	ENSP00000493197.1:n.304+4945T>A
ENST00000641397.1:c.439+4945T>A	ENSP00000493406.1:n.439+4945T>A
ENST00000641434.1:c.730T>A	ENSP00000493279.1:p.Cys244Ser
ENST00000641464.1:c.449+1046T>A	ENSP00000493438.1:n.449+1046T>A
ENST00000641482.1:c.730T>A	ENSP00000493277.1:p.Cys244Ser
ENST00000641503.1:c.616T>A	ENSP00000493304.1:p.Cys206Ser
ENST00000641508.1:c.698+1046T>A	ENSP00000493209.1:n.698+1046T>A
ENST00000641509.1:c.439+4945T>A	ENSP00000493459.1:n.439+4945T>A
ENST00000641538.1:c.576T>A
ENST00000641590.1:c.616T>A	ENSP00000493132.1:p.Cys206Ser
ENST00000641658.1:c.450T>A	ENSP00000492987.1:p.Ser150Arg
ENST00000641686.2:c.730T>A MANE Select	ENSP00000493218.2:p.Cys244Ser
ENST00000641690.1:c.553+3238T>A	ENSP00000492966.1:n.553+3238T>A
ENST00000641695.1:c.*14T>A	ENSP00000493134.1:n.*14T>A
ENST00000641742.1:c.585T>A	ENSP00000493315.1:p.Ser195Arg
ENST00000641743.1:c.730T>A	ENSP00000493130.1:p.Cys244Ser
ENST00000641748.1:c.730T>A	ENSP00000493330.1:p.Cys244Ser
ENST00000641753.1:c.557T>A
ENST00000641774.1:c.584+1046T>A	ENSP00000492960.1:n.584+1046T>A
ENST00000641776.1:c.*282T>A	ENSP00000493261.1:n.*282T>A
ENST00000641830.1:c.66T>A
ENST00000641843.1:c.336T>A	ENSP00000493174.1:p.Ser112Arg
ENST00000641869.1:c.35T>A
ENST00000641870.1:c.585T>A	ENSP00000493044.1:p.Ser195Arg
ENST00000641882.1:c.471T>A	ENSP00000493301.1:p.Ser157Arg
ENST00000641928.1:c.449+1046T>A	ENSP00000493418.1:n.449+1046T>A
ENST00000641949.1:c.553+3238T>A	ENSP00000492891.1:n.553+3238T>A
ENST00000642012.1:n.594T>A
ENST00000642034.1:c.616T>A	ENSP00000493285.1:p.Cys206Ser
ENST00000642042.1:c.730T>A	ENSP00000493260.1:p.Cys244Ser
ENST00000642078.1:c.450T>A	ENSP00000492885.1:p.Ser150Arg
ENST00000642121.1:n.91-7990T>A
ENST00000296468.7:c.730T>A	ENSP00000296468.3:p.Cys244Ser
ENST00000505284.5:n.625T>A
ENST00000508441.1:n.597T>A
ENST00000509826.1:c.449+1046T>A	ENSP00000421176.1:n.449+1046T>A
ENST00000513559.5:c.595T>A	ENSP00000425000.1:p.Cys199Ser
ENST00000515130.5:n.1176T>A
NM_152778.2:c.730T>A	NP_689991.1:p.Cys244Ser
XM_005262893.1:c.730T>A	XP_005262950.1:p.Cys244Ser
XM_005262896.1:c.583T>A	XP_005262953.1:p.Cys195Ser
XM_005262897.1:c.553+3238T>A	XP_005262954.1:n.553+3238T>A
XM_005262898.2:c.730T>A	XP_005262955.1:p.Cys244Ser
XM_005262900.2:c.585T>A	XP_005262957.1:p.Ser195Arg
XM_011531830.1:c.616T>A	XP_011530132.1:p.Cys206Ser
XM_011531831.1:c.439+4945T>A	XP_011530133.1:n.439+4945T>A
XM_011531832.1:c.616T>A	XP_011530134.1:p.Cys206Ser
XR_938717.1:n.807T>A
NM_001363520.1:c.553+3238T>A	NP_001350449.1:n.553+3238T>A
NM_001363521.1:c.439+4945T>A	NP_001350450.1:n.439+4945T>A
XM_005262898.3:c.730T>A	XP_005262955.1:p.Cys244Ser
XM_017007989.1:c.553+3238T>A	XP_016863478.1:n.553+3238T>A
XM_024453981.1:c.595T>A	XP_024309749.1:p.Cys199Ser
XM_024453982.1:c.481T>A	XP_024309750.1:p.Cys161Ser
XM_024453983.1:c.304+4945T>A	XP_024309751.1:n.304+4945T>A
XR_001741194.1:n.807T>A
XR_001741195.1:n.693T>A
XR_001741196.1:n.630+3238T>A
XR_001741197.1:n.662T>A
XR_001741198.2:n.662T>A
XR_001741199.1:n.662T>A
XR_938717.2:n.807T>A
NM_001363520.2:c.553+3238T>A	NP_001350449.1:n.553+3238T>A
NM_001363521.2:c.439+4945T>A	NP_001350450.1:n.439+4945T>A
NM_001371590.1:c.595T>A	NP_001358519.1:p.Cys199Ser
NM_001371591.1:c.730T>A	NP_001358520.1:p.Cys244Ser
NM_001371592.1:c.736T>A	NP_001358521.1:p.Cys246Ser
NM_001371593.1:c.616T>A	NP_001358522.1:p.Cys206Ser
NM_001371594.1:c.583T>A	NP_001358523.1:p.Cys195Ser
NM_001371595.1:c.448T>A	NP_001358524.1:p.Cys150Ser
NM_001371596.2:c.730T>A MANE Select	NP_001358525.1:p.Cys244Ser
NM_152778.3:c.730T>A	NP_689991.1:p.Cys244Ser
NM_152778.4:c.730T>A	NP_689991.1:p.Cys244Ser