Canonical Allele Identifier: CA358171923

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127921918-C-A
• MyVariant Identifiers: chr4:g.128843073C>A (hg19) ; chr4:g.127921918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921918C>A , CM000666.2:g.127921918C>A	GRCh38
NC_000004.11:g.128843073C>A , CM000666.1:g.128843073C>A	GRCh37
NC_000004.10:g.129062523C>A	NCBI36
NG_008657.1:g.49067G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1044G>T	ENSP00000296468.3:p.Trp348Cys
ENST00000509826.2:c.*277G>T	ENSP00000421176.2:n.*277G>T
ENST00000513559.6:c.762G>T	ENSP00000425000.2:p.Trp254Cys
ENST00000515130.6:c.864-147G>T	ENSP00000493056.1:n.864-147G>T
ENST00000641025.1:c.999-147G>T	ENSP00000493346.1:n.999-147G>T
ENST00000641092.1:c.798-147G>T	ENSP00000493392.1:n.798-147G>T
ENST00000641133.1:c.*358G>T	ENSP00000493192.1:n.*358G>T
ENST00000641146.1:n.910G>T
ENST00000641147.1:c.594G>T	ENSP00000493133.1:p.Trp198Cys
ENST00000641178.1:c.909G>T	ENSP00000492989.1:p.Trp303Cys
ENST00000641186.1:c.930G>T	ENSP00000493347.1:p.Trp310Cys
ENST00000641228.1:c.798-147G>T	ENSP00000493194.1:n.798-147G>T
ENST00000641332.1:c.*164-147G>T	ENSP00000493397.1:n.*164-147G>T
ENST00000641340.1:c.*232-147G>T	ENSP00000493191.1:n.*232-147G>T
ENST00000641388.1:n.350-147G>T
ENST00000641393.1:c.594G>T	ENSP00000493197.1:p.Trp198Cys
ENST00000641397.1:c.684-147G>T	ENSP00000493406.1:n.684-147G>T
ENST00000641413.1:c.28-147G>T
ENST00000641434.1:c.1044G>T	ENSP00000493279.1:p.Trp348Cys
ENST00000641464.1:c.*277G>T	ENSP00000493438.1:n.*277G>T
ENST00000641482.1:c.999-147G>T	ENSP00000493277.1:n.999-147G>T
ENST00000641508.1:c.*277G>T	ENSP00000493209.1:n.*277G>T
ENST00000641509.1:c.729G>T	ENSP00000493459.1:p.Trp243Cys
ENST00000641590.1:c.885-147G>T	ENSP00000493132.1:n.885-147G>T
ENST00000641658.1:c.*209G>T	ENSP00000492987.1:n.*209G>T
ENST00000641686.2:c.1044G>T MANE Select	ENSP00000493218.2:p.Trp348Cys
ENST00000641690.1:c.843G>T	ENSP00000492966.1:p.Trp281Cys
ENST00000641742.1:c.*209G>T	ENSP00000493315.1:n.*209G>T
ENST00000641748.1:c.1044G>T	ENSP00000493330.1:p.Trp348Cys
ENST00000641753.1:c.871G>T
ENST00000641774.1:c.*296G>T	ENSP00000492960.1:n.*296G>T
ENST00000641830.1:c.335-147G>T
ENST00000641843.1:c.*164-147G>T	ENSP00000493174.1:n.*164-147G>T
ENST00000641869.1:c.304-147G>T
ENST00000641870.1:c.*164-147G>T	ENSP00000493044.1:n.*164-147G>T
ENST00000641882.1:c.*209G>T	ENSP00000493301.1:n.*209G>T
ENST00000641928.1:c.*232-147G>T	ENSP00000493418.1:n.*232-147G>T
ENST00000641949.1:c.554-1082G>T	ENSP00000492891.1:n.554-1082G>T
ENST00000642012.1:n.908G>T
ENST00000642034.1:c.885-147G>T	ENSP00000493285.1:n.885-147G>T
ENST00000642042.1:c.1044G>T	ENSP00000493260.1:p.Trp348Cys
ENST00000642078.1:c.*164-147G>T	ENSP00000492885.1:n.*164-147G>T
ENST00000296468.7:c.1044G>T	ENSP00000296468.3:p.Trp348Cys
ENST00000504126.1:n.72G>T
ENST00000505284.5:n.894-147G>T
ENST00000509826.1:c.*277G>T	ENSP00000421176.1:n.*277G>T
ENST00000513559.5:c.909G>T	ENSP00000425000.1:p.Trp303Cys
ENST00000515130.5:n.1445-147G>T
NM_152778.2:c.1044G>T	NP_689991.1:p.Trp348Cys
XM_005262893.1:c.1044G>T	XP_005262950.1:p.Trp348Cys
XM_005262896.1:c.897G>T	XP_005262953.1:p.Trp299Cys
XM_005262897.1:c.843G>T	XP_005262954.1:p.Trp281Cys
XM_005262898.2:c.999-147G>T	XP_005262955.1:n.999-147G>T
XM_011531830.1:c.930G>T	XP_011530132.1:p.Trp310Cys
XM_011531831.1:c.729G>T	XP_011530133.1:p.Trp243Cys
XM_011531832.1:c.885-147G>T	XP_011530134.1:n.885-147G>T
XR_938717.1:n.1121G>T
NM_001363520.1:c.843G>T	NP_001350449.1:p.Trp281Cys
NM_001363521.1:c.729G>T	NP_001350450.1:p.Trp243Cys
XM_005262898.3:c.999-147G>T	XP_005262955.1:n.999-147G>T
XM_017007989.1:c.798-147G>T	XP_016863478.1:n.798-147G>T
XM_024453981.1:c.909G>T	XP_024309749.1:p.Trp303Cys
XM_024453982.1:c.795G>T	XP_024309750.1:p.Trp265Cys
XM_024453983.1:c.594G>T	XP_024309751.1:p.Trp198Cys
XR_001741194.1:n.1076-147G>T
XR_001741195.1:n.962-147G>T
XR_001741196.1:n.875-147G>T
XR_001741197.1:n.976G>T
XR_001741198.2:n.931-147G>T
XR_001741199.1:n.931-147G>T
XR_938717.2:n.1121G>T
NM_001363520.2:c.843G>T	NP_001350449.1:p.Trp281Cys
NM_001363521.2:c.729G>T	NP_001350450.1:p.Trp243Cys
NM_001371590.1:c.909G>T	NP_001358519.1:p.Trp303Cys
NM_001371591.1:c.1044G>T	NP_001358520.1:p.Trp348Cys
NM_001371592.1:c.1050G>T	NP_001358521.1:p.Trp350Cys
NM_001371593.1:c.930G>T	NP_001358522.1:p.Trp310Cys
NM_001371594.1:c.897G>T	NP_001358523.1:p.Trp299Cys
NM_001371595.1:c.762G>T	NP_001358524.1:p.Trp254Cys
NM_001371596.2:c.1044G>T MANE Select	NP_001358525.1:p.Trp348Cys
NM_152778.3:c.1044G>T	NP_689991.1:p.Trp348Cys
NM_152778.4:c.1044G>T	NP_689991.1:p.Trp348Cys