Canonical Allele Identifier: CA358175169

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127938786-C-A
• MyVariant Identifiers: chr4:g.128859941C>A (hg19) ; chr4:g.127938786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938786C>A , CM000666.2:g.127938786C>A	GRCh38
NC_000004.11:g.128859941C>A , CM000666.1:g.128859941C>A	GRCh37
NC_000004.10:g.129079391C>A	NCBI36
NG_008657.1:g.32199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.751G>T	ENSP00000296468.3:p.Glu251Ter
ENST00000505284.6:n.967G>T
ENST00000509826.2:c.698+1067G>T	ENSP00000421176.2:n.698+1067G>T
ENST00000513559.6:c.469G>T	ENSP00000425000.2:p.Glu157Ter
ENST00000515130.6:c.616G>T	ENSP00000493056.1:p.Glu206Ter
ENST00000641025.1:c.751G>T	ENSP00000493346.1:p.Glu251Ter
ENST00000641092.1:c.553+3259G>T	ENSP00000493392.1:n.553+3259G>T
ENST00000641133.1:c.*65G>T	ENSP00000493192.1:n.*65G>T
ENST00000641134.1:c.471G>T	ENSP00000492925.1:p.Lys157Asn
ENST00000641147.1:c.304+4966G>T	ENSP00000493133.1:n.304+4966G>T
ENST00000641178.1:c.616G>T	ENSP00000492989.1:p.Glu206Ter
ENST00000641186.1:c.637G>T	ENSP00000493347.1:p.Glu213Ter
ENST00000641228.1:c.553+3259G>T	ENSP00000493194.1:n.553+3259G>T
ENST00000641243.1:c.606G>T	ENSP00000493083.1:p.Lys202Asn
ENST00000641264.1:c.*548G>T	ENSP00000492908.1:n.*548G>T
ENST00000641332.1:c.606G>T	ENSP00000493397.1:p.Lys202Asn
ENST00000641340.1:c.698+1067G>T	ENSP00000493191.1:n.698+1067G>T
ENST00000641369.1:c.247G>T	ENSP00000493037.1:p.Glu83Ter
ENST00000641393.1:c.304+4966G>T	ENSP00000493197.1:n.304+4966G>T
ENST00000641397.1:c.439+4966G>T	ENSP00000493406.1:n.439+4966G>T
ENST00000641434.1:c.751G>T	ENSP00000493279.1:p.Glu251Ter
ENST00000641464.1:c.449+1067G>T	ENSP00000493438.1:n.449+1067G>T
ENST00000641482.1:c.751G>T	ENSP00000493277.1:p.Glu251Ter
ENST00000641503.1:c.637G>T	ENSP00000493304.1:p.Glu213Ter
ENST00000641508.1:c.698+1067G>T	ENSP00000493209.1:n.698+1067G>T
ENST00000641509.1:c.439+4966G>T	ENSP00000493459.1:n.439+4966G>T
ENST00000641538.1:c.597G>T
ENST00000641590.1:c.637G>T	ENSP00000493132.1:p.Glu213Ter
ENST00000641658.1:c.471G>T	ENSP00000492987.1:p.Lys157Asn
ENST00000641686.2:c.751G>T MANE Select	ENSP00000493218.2:p.Glu251Ter
ENST00000641690.1:c.553+3259G>T	ENSP00000492966.1:n.553+3259G>T
ENST00000641695.1:c.*35G>T	ENSP00000493134.1:n.*35G>T
ENST00000641742.1:c.606G>T	ENSP00000493315.1:p.Lys202Asn
ENST00000641743.1:c.751G>T	ENSP00000493130.1:p.Glu251Ter
ENST00000641748.1:c.751G>T	ENSP00000493330.1:p.Glu251Ter
ENST00000641753.1:c.578G>T
ENST00000641774.1:c.584+1067G>T	ENSP00000492960.1:n.584+1067G>T
ENST00000641776.1:c.*303G>T	ENSP00000493261.1:n.*303G>T
ENST00000641830.1:c.87G>T
ENST00000641843.1:c.357G>T	ENSP00000493174.1:p.Lys119Asn
ENST00000641869.1:c.56G>T
ENST00000641870.1:c.606G>T	ENSP00000493044.1:p.Lys202Asn
ENST00000641882.1:c.492G>T	ENSP00000493301.1:p.Lys164Asn
ENST00000641928.1:c.449+1067G>T	ENSP00000493418.1:n.449+1067G>T
ENST00000641949.1:c.553+3259G>T	ENSP00000492891.1:n.553+3259G>T
ENST00000642012.1:n.615G>T
ENST00000642034.1:c.637G>T	ENSP00000493285.1:p.Glu213Ter
ENST00000642042.1:c.751G>T	ENSP00000493260.1:p.Glu251Ter
ENST00000642078.1:c.471G>T	ENSP00000492885.1:p.Lys157Asn
ENST00000642121.1:n.91-7969G>T
ENST00000296468.7:c.751G>T	ENSP00000296468.3:p.Glu251Ter
ENST00000505284.5:n.646G>T
ENST00000508441.1:n.618G>T
ENST00000509826.1:c.449+1067G>T	ENSP00000421176.1:n.449+1067G>T
ENST00000513559.5:c.616G>T	ENSP00000425000.1:p.Glu206Ter
ENST00000515130.5:n.1197G>T
NM_152778.2:c.751G>T	NP_689991.1:p.Glu251Ter
XM_005262893.1:c.751G>T	XP_005262950.1:p.Glu251Ter
XM_005262896.1:c.604G>T	XP_005262953.1:p.Glu202Ter
XM_005262897.1:c.553+3259G>T	XP_005262954.1:n.553+3259G>T
XM_005262898.2:c.751G>T	XP_005262955.1:p.Glu251Ter
XM_005262900.2:c.606G>T	XP_005262957.1:p.Lys202Asn
XM_011531830.1:c.637G>T	XP_011530132.1:p.Glu213Ter
XM_011531831.1:c.439+4966G>T	XP_011530133.1:n.439+4966G>T
XM_011531832.1:c.637G>T	XP_011530134.1:p.Glu213Ter
XR_938717.1:n.828G>T
NM_001363520.1:c.553+3259G>T	NP_001350449.1:n.553+3259G>T
NM_001363521.1:c.439+4966G>T	NP_001350450.1:n.439+4966G>T
XM_005262898.3:c.751G>T	XP_005262955.1:p.Glu251Ter
XM_017007989.1:c.553+3259G>T	XP_016863478.1:n.553+3259G>T
XM_024453981.1:c.616G>T	XP_024309749.1:p.Glu206Ter
XM_024453982.1:c.502G>T	XP_024309750.1:p.Glu168Ter
XM_024453983.1:c.304+4966G>T	XP_024309751.1:n.304+4966G>T
XR_001741194.1:n.828G>T
XR_001741195.1:n.714G>T
XR_001741196.1:n.630+3259G>T
XR_001741197.1:n.683G>T
XR_001741198.2:n.683G>T
XR_001741199.1:n.683G>T
XR_938717.2:n.828G>T
NM_001363520.2:c.553+3259G>T	NP_001350449.1:n.553+3259G>T
NM_001363521.2:c.439+4966G>T	NP_001350450.1:n.439+4966G>T
NM_001371590.1:c.616G>T	NP_001358519.1:p.Glu206Ter
NM_001371591.1:c.751G>T	NP_001358520.1:p.Glu251Ter
NM_001371592.1:c.757G>T	NP_001358521.1:p.Glu253Ter
NM_001371593.1:c.637G>T	NP_001358522.1:p.Glu213Ter
NM_001371594.1:c.604G>T	NP_001358523.1:p.Glu202Ter
NM_001371595.1:c.469G>T	NP_001358524.1:p.Glu157Ter
NM_001371596.2:c.751G>T MANE Select	NP_001358525.1:p.Glu251Ter
NM_152778.3:c.751G>T	NP_689991.1:p.Glu251Ter
NM_152778.4:c.751G>T	NP_689991.1:p.Glu251Ter