Canonical Allele Identifier: CA3077237

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 2166942
• ClinVar RCV Id: RCV003080332
• dbSNP Id: rs749064799
• ExAC: 4:128841998 G / A
• gnomAD v2: 4-128841998-G-A
• gnomAD v4: 4-127920843-G-A
• MyVariant Identifiers: chr4:g.128841998G>A (hg19) ; chr4:g.127920843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920843G>A , CM000666.2:g.127920843G>A	GRCh38
NC_000004.11:g.128841998G>A , CM000666.1:g.128841998G>A	GRCh37
NC_000004.10:g.129061448G>A	NCBI36
NG_008657.1:g.50142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1351-7C>T	ENSP00000296468.3:n.1351-7C>T
ENST00000509826.2:c.*672-7C>T	ENSP00000421176.2:n.*672-7C>T
ENST00000513559.6:c.1069-7C>T	ENSP00000425000.2:n.1069-7C>T
ENST00000515130.6:c.*236-7C>T	ENSP00000493056.1:n.*236-7C>T
ENST00000641025.1:c.*236-7C>T	ENSP00000493346.1:n.*236-7C>T
ENST00000641092.1:c.*236-7C>T	ENSP00000493392.1:n.*236-7C>T
ENST00000641133.1:c.*1345C>T	ENSP00000493192.1:n.*1345C>T
ENST00000641146.1:n.1897C>T
ENST00000641147.1:c.901-7C>T	ENSP00000493133.1:n.901-7C>T
ENST00000641178.1:c.1216-7C>T	ENSP00000492989.1:n.1216-7C>T
ENST00000641186.1:c.1237-7C>T	ENSP00000493347.1:n.1237-7C>T
ENST00000641228.1:c.*916C>T	ENSP00000493194.1:n.*916C>T
ENST00000641332.1:c.*493-7C>T	ENSP00000493397.1:n.*493-7C>T
ENST00000641340.1:c.*1160C>T	ENSP00000493191.1:n.*1160C>T
ENST00000641388.1:n.598-7C>T
ENST00000641393.1:c.901-7C>T	ENSP00000493197.1:n.901-7C>T
ENST00000641397.1:c.*236-7C>T	ENSP00000493406.1:n.*236-7C>T
ENST00000641413.1:c.276-7C>T
ENST00000641434.1:c.1351-7C>T	ENSP00000493279.1:n.1351-7C>T
ENST00000641464.1:c.*584-7C>T	ENSP00000493438.1:n.*584-7C>T
ENST00000641482.1:c.*916C>T	ENSP00000493277.1:n.*916C>T
ENST00000641508.1:c.*584-7C>T	ENSP00000493209.1:n.*584-7C>T
ENST00000641509.1:c.1036-7C>T	ENSP00000493459.1:n.1036-7C>T
ENST00000641590.1:c.*916C>T	ENSP00000493132.1:n.*916C>T
ENST00000641658.1:c.*516-7C>T	ENSP00000492987.1:n.*516-7C>T
ENST00000641686.2:c.1351-7C>T MANE Select	ENSP00000493218.2:n.1351-7C>T
ENST00000641690.1:c.1150-7C>T	ENSP00000492966.1:n.1150-7C>T
ENST00000641742.1:c.*516-7C>T	ENSP00000493315.1:n.*516-7C>T
ENST00000641748.1:c.1351-7C>T	ENSP00000493330.1:n.1351-7C>T
ENST00000641753.1:c.1178-7C>T
ENST00000641774.1:c.*603-7C>T	ENSP00000492960.1:n.*603-7C>T
ENST00000641843.1:c.*412-7C>T	ENSP00000493174.1:n.*412-7C>T
ENST00000641869.1:c.552-7C>T
ENST00000641870.1:c.*1092C>T	ENSP00000493044.1:n.*1092C>T
ENST00000641882.1:c.*516-7C>T	ENSP00000493301.1:n.*516-7C>T
ENST00000641928.1:c.*480-7C>T	ENSP00000493418.1:n.*480-7C>T
ENST00000641949.1:c.554-7C>T	ENSP00000492891.1:n.554-7C>T
ENST00000642012.1:n.1215-7C>T
ENST00000642034.1:c.*236-7C>T	ENSP00000493285.1:n.*236-7C>T
ENST00000642042.1:c.*663C>T	ENSP00000493260.1:n.*663C>T
ENST00000642078.1:c.*412-7C>T	ENSP00000492885.1:n.*412-7C>T
ENST00000296468.7:c.1351-7C>T	ENSP00000296468.3:n.1351-7C>T
ENST00000513559.5:c.1216-7C>T	ENSP00000425000.1:n.1216-7C>T
ENST00000515130.5:n.1693-7C>T
NM_152778.2:c.1351-7C>T	NP_689991.1:n.1351-7C>T
XM_005262893.1:c.1351-7C>T	XP_005262950.1:n.1351-7C>T
XM_005262896.1:c.1204-7C>T	XP_005262953.1:n.1204-7C>T
XM_005262897.1:c.1150-7C>T	XP_005262954.1:n.1150-7C>T
XM_005262898.2:c.*916C>T	XP_005262955.1:n.*916C>T
XM_011531830.1:c.1237-7C>T	XP_011530132.1:n.1237-7C>T
XM_011531831.1:c.1036-7C>T	XP_011530133.1:n.1036-7C>T
XM_011531832.1:c.*916C>T	XP_011530134.1:n.*916C>T
XR_938717.1:n.1834-7C>T
NM_001363520.1:c.1150-7C>T	NP_001350449.1:n.1150-7C>T
NM_001363521.1:c.1036-7C>T	NP_001350450.1:n.1036-7C>T
XM_005262898.3:c.*916C>T	XP_005262955.1:n.*916C>T
XM_017007989.1:c.*916C>T	XP_016863478.1:n.*916C>T
XM_024453981.1:c.1216-7C>T	XP_024309749.1:n.1216-7C>T
XM_024453982.1:c.1102-7C>T	XP_024309750.1:n.1102-7C>T
XM_024453983.1:c.901-7C>T	XP_024309751.1:n.901-7C>T
XR_001741194.1:n.1324-7C>T
XR_001741195.1:n.1210-7C>T
XR_001741196.1:n.1123-7C>T
XR_001741197.1:n.1963C>T
XR_001741198.2:n.1859C>T
XR_001741199.1:n.1179-7C>T
XR_938717.2:n.1834-7C>T
NM_001363520.2:c.1150-7C>T	NP_001350449.1:n.1150-7C>T
NM_001363521.2:c.1036-7C>T	NP_001350450.1:n.1036-7C>T
NM_001371590.1:c.1216-7C>T	NP_001358519.1:n.1216-7C>T
NM_001371591.1:c.1360-7C>T	NP_001358520.1:n.1360-7C>T
NM_001371592.1:c.1357-7C>T	NP_001358521.1:n.1357-7C>T
NM_001371593.1:c.1237-7C>T	NP_001358522.1:n.1237-7C>T
NM_001371594.1:c.1204-7C>T	NP_001358523.1:n.1204-7C>T
NM_001371595.1:c.1069-7C>T	NP_001358524.1:n.1069-7C>T
NM_001371596.2:c.1351-7C>T MANE Select	NP_001358525.1:n.1351-7C>T
NM_152778.3:c.1351-7C>T	NP_689991.1:n.1351-7C>T
NM_152778.4:c.1351-7C>T	NP_689991.1:n.1351-7C>T