Canonical Allele Identifier: CA3077248

Gene: MFSD8

Linked Data

• dbSNP Id: rs754554609
• ExAC: 4:128842674 C / T
• gnomAD v4: 4-127921519-C-T
• MyVariant Identifiers: chr4:g.128842674C>T (hg19) ; chr4:g.127921519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921519C>T , CM000666.2:g.127921519C>T	GRCh38
NC_000004.11:g.128842674C>T , CM000666.1:g.128842674C>T	GRCh37
NC_000004.10:g.129062124C>T	NCBI36
NG_008657.1:g.49466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1350+5G>A	ENSP00000296468.3:n.1350+5G>A
ENST00000509826.2:c.*671+5G>A	ENSP00000421176.2:n.*671+5G>A
ENST00000513559.6:c.1068+5G>A	ENSP00000425000.2:n.1068+5G>A
ENST00000515130.6:c.*235+5G>A	ENSP00000493056.1:n.*235+5G>A
ENST00000641025.1:c.*235+5G>A	ENSP00000493346.1:n.*235+5G>A
ENST00000641092.1:c.*235+5G>A	ENSP00000493392.1:n.*235+5G>A
ENST00000641133.1:c.*669G>A	ENSP00000493192.1:n.*669G>A
ENST00000641146.1:n.1221G>A
ENST00000641147.1:c.900+5G>A	ENSP00000493133.1:n.900+5G>A
ENST00000641178.1:c.1215+5G>A	ENSP00000492989.1:n.1215+5G>A
ENST00000641186.1:c.1236+5G>A	ENSP00000493347.1:n.1236+5G>A
ENST00000641228.1:c.*240G>A	ENSP00000493194.1:n.*240G>A
ENST00000641332.1:c.*411+5G>A	ENSP00000493397.1:n.*411+5G>A
ENST00000641340.1:c.*484G>A	ENSP00000493191.1:n.*484G>A
ENST00000641388.1:n.597+5G>A
ENST00000641393.1:c.900+5G>A	ENSP00000493197.1:n.900+5G>A
ENST00000641397.1:c.*235+5G>A	ENSP00000493406.1:n.*235+5G>A
ENST00000641413.1:c.275+5G>A
ENST00000641434.1:c.1350+5G>A	ENSP00000493279.1:n.1350+5G>A
ENST00000641464.1:c.*583+5G>A	ENSP00000493438.1:n.*583+5G>A
ENST00000641482.1:c.*240G>A	ENSP00000493277.1:n.*240G>A
ENST00000641508.1:c.*583+5G>A	ENSP00000493209.1:n.*583+5G>A
ENST00000641509.1:c.1035+5G>A	ENSP00000493459.1:n.1035+5G>A
ENST00000641590.1:c.*240G>A	ENSP00000493132.1:n.*240G>A
ENST00000641658.1:c.*515+5G>A	ENSP00000492987.1:n.*515+5G>A
ENST00000641686.2:c.1350+5G>A MANE Select	ENSP00000493218.2:n.1350+5G>A
ENST00000641690.1:c.1149+5G>A	ENSP00000492966.1:n.1149+5G>A
ENST00000641742.1:c.*515+5G>A	ENSP00000493315.1:n.*515+5G>A
ENST00000641748.1:c.1350+5G>A	ENSP00000493330.1:n.1350+5G>A
ENST00000641753.1:c.1177+5G>A
ENST00000641774.1:c.*602+5G>A	ENSP00000492960.1:n.*602+5G>A
ENST00000641830.1:c.587G>A
ENST00000641843.1:c.*411+5G>A	ENSP00000493174.1:n.*411+5G>A
ENST00000641869.1:c.551+5G>A
ENST00000641870.1:c.*416G>A	ENSP00000493044.1:n.*416G>A
ENST00000641882.1:c.*515+5G>A	ENSP00000493301.1:n.*515+5G>A
ENST00000641928.1:c.*479+5G>A	ENSP00000493418.1:n.*479+5G>A
ENST00000641949.1:c.554-683G>A	ENSP00000492891.1:n.554-683G>A
ENST00000642012.1:n.1214+5G>A
ENST00000642034.1:c.*235+5G>A	ENSP00000493285.1:n.*235+5G>A
ENST00000642042.1:c.1355G>A	ENSP00000493260.1:p.Ser452Asn
ENST00000642078.1:c.*411+5G>A	ENSP00000492885.1:n.*411+5G>A
ENST00000296468.7:c.1350+5G>A	ENSP00000296468.3:n.1350+5G>A
ENST00000504126.1:n.383G>A
ENST00000513559.5:c.1215+5G>A	ENSP00000425000.1:n.1215+5G>A
ENST00000515130.5:n.1692+5G>A
NM_152778.2:c.1350+5G>A	NP_689991.1:n.1350+5G>A
XM_005262893.1:c.1350+5G>A	XP_005262950.1:n.1350+5G>A
XM_005262896.1:c.1203+5G>A	XP_005262953.1:n.1203+5G>A
XM_005262897.1:c.1149+5G>A	XP_005262954.1:n.1149+5G>A
XM_005262898.2:c.*240G>A	XP_005262955.1:n.*240G>A
XM_011531830.1:c.1236+5G>A	XP_011530132.1:n.1236+5G>A
XM_011531831.1:c.1035+5G>A	XP_011530133.1:n.1035+5G>A
XM_011531832.1:c.*240G>A	XP_011530134.1:n.*240G>A
XR_938717.1:n.1432G>A
NM_001363520.1:c.1149+5G>A	NP_001350449.1:n.1149+5G>A
NM_001363521.1:c.1035+5G>A	NP_001350450.1:n.1035+5G>A
XM_005262898.3:c.*240G>A	XP_005262955.1:n.*240G>A
XM_017007989.1:c.*240G>A	XP_016863478.1:n.*240G>A
XM_024453981.1:c.1215+5G>A	XP_024309749.1:n.1215+5G>A
XM_024453982.1:c.1101+5G>A	XP_024309750.1:n.1101+5G>A
XM_024453983.1:c.900+5G>A	XP_024309751.1:n.900+5G>A
XR_001741194.1:n.1323+5G>A
XR_001741195.1:n.1209+5G>A
XR_001741196.1:n.1122+5G>A
XR_001741197.1:n.1287G>A
XR_001741198.2:n.1183G>A
XR_001741199.1:n.1178+5G>A
XR_938717.2:n.1432G>A
NM_001363520.2:c.1149+5G>A	NP_001350449.1:n.1149+5G>A
NM_001363521.2:c.1035+5G>A	NP_001350450.1:n.1035+5G>A
NM_001371590.1:c.1215+5G>A	NP_001358519.1:n.1215+5G>A
NM_001371591.1:c.1355G>A	NP_001358520.1:p.Ser452Asn
NM_001371592.1:c.1356+5G>A	NP_001358521.1:n.1356+5G>A
NM_001371593.1:c.1236+5G>A	NP_001358522.1:n.1236+5G>A
NM_001371594.1:c.1203+5G>A	NP_001358523.1:n.1203+5G>A
NM_001371595.1:c.1068+5G>A	NP_001358524.1:n.1068+5G>A
NM_001371596.2:c.1350+5G>A MANE Select	NP_001358525.1:n.1350+5G>A
NM_152778.3:c.1350+5G>A	NP_689991.1:n.1350+5G>A
NM_152778.4:c.1350+5G>A	NP_689991.1:n.1350+5G>A