Canonical Allele Identifier: CA3077302

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 1440764
• ClinVar RCV Id: RCV001978939
• dbSNP Id: rs781391960
• ExAC: 4:128843045 C / T
• gnomAD v2: 4-128843045-C-T
• gnomAD v4: 4-127921890-C-T
• MyVariant Identifiers: chr4:g.128843045C>T (hg19) ; chr4:g.127921890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921890C>T , CM000666.2:g.127921890C>T	GRCh38
NC_000004.11:g.128843045C>T , CM000666.1:g.128843045C>T	GRCh37
NC_000004.10:g.129062495C>T	NCBI36
NG_008657.1:g.49095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1072G>A	ENSP00000296468.3:p.Gly358Arg
ENST00000509826.2:c.*305G>A	ENSP00000421176.2:n.*305G>A
ENST00000513559.6:c.790G>A	ENSP00000425000.2:p.Gly264Arg
ENST00000515130.6:c.864-119G>A	ENSP00000493056.1:n.864-119G>A
ENST00000641025.1:c.999-119G>A	ENSP00000493346.1:n.999-119G>A
ENST00000641092.1:c.798-119G>A	ENSP00000493392.1:n.798-119G>A
ENST00000641133.1:c.*386G>A	ENSP00000493192.1:n.*386G>A
ENST00000641146.1:n.938G>A
ENST00000641147.1:c.622G>A	ENSP00000493133.1:p.Gly208Arg
ENST00000641178.1:c.937G>A	ENSP00000492989.1:p.Gly313Arg
ENST00000641186.1:c.958G>A	ENSP00000493347.1:p.Gly320Arg
ENST00000641228.1:c.798-119G>A	ENSP00000493194.1:n.798-119G>A
ENST00000641332.1:c.*164-119G>A	ENSP00000493397.1:n.*164-119G>A
ENST00000641340.1:c.*232-119G>A	ENSP00000493191.1:n.*232-119G>A
ENST00000641388.1:n.350-119G>A
ENST00000641393.1:c.622G>A	ENSP00000493197.1:p.Gly208Arg
ENST00000641397.1:c.684-119G>A	ENSP00000493406.1:n.684-119G>A
ENST00000641413.1:c.28-119G>A
ENST00000641434.1:c.1072G>A	ENSP00000493279.1:p.Gly358Arg
ENST00000641464.1:c.*305G>A	ENSP00000493438.1:n.*305G>A
ENST00000641482.1:c.999-119G>A	ENSP00000493277.1:n.999-119G>A
ENST00000641508.1:c.*305G>A	ENSP00000493209.1:n.*305G>A
ENST00000641509.1:c.757G>A	ENSP00000493459.1:p.Gly253Arg
ENST00000641590.1:c.885-119G>A	ENSP00000493132.1:n.885-119G>A
ENST00000641658.1:c.*237G>A	ENSP00000492987.1:n.*237G>A
ENST00000641686.2:c.1072G>A MANE Select	ENSP00000493218.2:p.Gly358Arg
ENST00000641690.1:c.871G>A	ENSP00000492966.1:p.Gly291Arg
ENST00000641742.1:c.*237G>A	ENSP00000493315.1:n.*237G>A
ENST00000641748.1:c.1072G>A	ENSP00000493330.1:p.Gly358Arg
ENST00000641753.1:c.899G>A
ENST00000641774.1:c.*324G>A	ENSP00000492960.1:n.*324G>A
ENST00000641830.1:c.335-119G>A
ENST00000641843.1:c.*164-119G>A	ENSP00000493174.1:n.*164-119G>A
ENST00000641869.1:c.304-119G>A
ENST00000641870.1:c.*164-119G>A	ENSP00000493044.1:n.*164-119G>A
ENST00000641882.1:c.*237G>A	ENSP00000493301.1:n.*237G>A
ENST00000641928.1:c.*232-119G>A	ENSP00000493418.1:n.*232-119G>A
ENST00000641949.1:c.554-1054G>A	ENSP00000492891.1:n.554-1054G>A
ENST00000642012.1:n.936G>A
ENST00000642034.1:c.885-119G>A	ENSP00000493285.1:n.885-119G>A
ENST00000642042.1:c.1072G>A	ENSP00000493260.1:p.Gly358Arg
ENST00000642078.1:c.*164-119G>A	ENSP00000492885.1:n.*164-119G>A
ENST00000296468.7:c.1072G>A	ENSP00000296468.3:p.Gly358Arg
ENST00000504126.1:n.100G>A
ENST00000505284.5:n.894-119G>A
ENST00000509826.1:c.*305G>A	ENSP00000421176.1:n.*305G>A
ENST00000513559.5:c.937G>A	ENSP00000425000.1:p.Gly313Arg
ENST00000515130.5:n.1445-119G>A
NM_152778.2:c.1072G>A	NP_689991.1:p.Gly358Arg
XM_005262893.1:c.1072G>A	XP_005262950.1:p.Gly358Arg
XM_005262896.1:c.925G>A	XP_005262953.1:p.Gly309Arg
XM_005262897.1:c.871G>A	XP_005262954.1:p.Gly291Arg
XM_005262898.2:c.999-119G>A	XP_005262955.1:n.999-119G>A
XM_011531830.1:c.958G>A	XP_011530132.1:p.Gly320Arg
XM_011531831.1:c.757G>A	XP_011530133.1:p.Gly253Arg
XM_011531832.1:c.885-119G>A	XP_011530134.1:n.885-119G>A
XR_938717.1:n.1149G>A
NM_001363520.1:c.871G>A	NP_001350449.1:p.Gly291Arg
NM_001363521.1:c.757G>A	NP_001350450.1:p.Gly253Arg
XM_005262898.3:c.999-119G>A	XP_005262955.1:n.999-119G>A
XM_017007989.1:c.798-119G>A	XP_016863478.1:n.798-119G>A
XM_024453981.1:c.937G>A	XP_024309749.1:p.Gly313Arg
XM_024453982.1:c.823G>A	XP_024309750.1:p.Gly275Arg
XM_024453983.1:c.622G>A	XP_024309751.1:p.Gly208Arg
XR_001741194.1:n.1076-119G>A
XR_001741195.1:n.962-119G>A
XR_001741196.1:n.875-119G>A
XR_001741197.1:n.1004G>A
XR_001741198.2:n.931-119G>A
XR_001741199.1:n.931-119G>A
XR_938717.2:n.1149G>A
NM_001363520.2:c.871G>A	NP_001350449.1:p.Gly291Arg
NM_001363521.2:c.757G>A	NP_001350450.1:p.Gly253Arg
NM_001371590.1:c.937G>A	NP_001358519.1:p.Gly313Arg
NM_001371591.1:c.1072G>A	NP_001358520.1:p.Gly358Arg
NM_001371592.1:c.1078G>A	NP_001358521.1:p.Gly360Arg
NM_001371593.1:c.958G>A	NP_001358522.1:p.Gly320Arg
NM_001371594.1:c.925G>A	NP_001358523.1:p.Gly309Arg
NM_001371595.1:c.790G>A	NP_001358524.1:p.Gly264Arg
NM_001371596.2:c.1072G>A MANE Select	NP_001358525.1:p.Gly358Arg
NM_152778.3:c.1072G>A	NP_689991.1:p.Gly358Arg
NM_152778.4:c.1072G>A	NP_689991.1:p.Gly358Arg