Canonical Allele Identifier: CA3077277

Gene: MFSD8

Linked Data

• dbSNP Id: rs775018656
• ExAC: 4:128842865 C / A
• gnomAD v2: 4-128842865-C-A
• gnomAD v4: 4-127921710-C-A
• MyVariant Identifiers: chr4:g.128842865C>A (hg19) ; chr4:g.127921710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921710C>A , CM000666.2:g.127921710C>A	GRCh38
NC_000004.11:g.128842865C>A , CM000666.1:g.128842865C>A	GRCh37
NC_000004.10:g.129062315C>A	NCBI36
NG_008657.1:g.49275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1164G>T	ENSP00000296468.3:p.Lys388Asn
ENST00000509826.2:c.*485G>T	ENSP00000421176.2:n.*485G>T
ENST00000513559.6:c.882G>T	ENSP00000425000.2:p.Lys294Asn
ENST00000515130.6:c.*49G>T	ENSP00000493056.1:n.*49G>T
ENST00000641025.1:c.*49G>T	ENSP00000493346.1:n.*49G>T
ENST00000641092.1:c.*49G>T	ENSP00000493392.1:n.*49G>T
ENST00000641133.1:c.*478G>T	ENSP00000493192.1:n.*478G>T
ENST00000641146.1:n.1030G>T
ENST00000641147.1:c.714G>T	ENSP00000493133.1:p.Lys238Asn
ENST00000641178.1:c.1029G>T	ENSP00000492989.1:p.Lys343Asn
ENST00000641186.1:c.1050G>T	ENSP00000493347.1:p.Lys350Asn
ENST00000641228.1:c.*49G>T	ENSP00000493194.1:n.*49G>T
ENST00000641332.1:c.*225G>T	ENSP00000493397.1:n.*225G>T
ENST00000641340.1:c.*293G>T	ENSP00000493191.1:n.*293G>T
ENST00000641388.1:n.411G>T
ENST00000641393.1:c.714G>T	ENSP00000493197.1:p.Lys238Asn
ENST00000641397.1:c.*49G>T	ENSP00000493406.1:n.*49G>T
ENST00000641413.1:c.89G>T
ENST00000641434.1:c.1164G>T	ENSP00000493279.1:p.Lys388Asn
ENST00000641464.1:c.*397G>T	ENSP00000493438.1:n.*397G>T
ENST00000641482.1:c.*49G>T	ENSP00000493277.1:n.*49G>T
ENST00000641508.1:c.*397G>T	ENSP00000493209.1:n.*397G>T
ENST00000641509.1:c.849G>T	ENSP00000493459.1:p.Lys283Asn
ENST00000641590.1:c.*49G>T	ENSP00000493132.1:n.*49G>T
ENST00000641658.1:c.*329G>T	ENSP00000492987.1:n.*329G>T
ENST00000641686.2:c.1164G>T MANE Select	ENSP00000493218.2:p.Lys388Asn
ENST00000641690.1:c.963G>T	ENSP00000492966.1:p.Lys321Asn
ENST00000641742.1:c.*329G>T	ENSP00000493315.1:n.*329G>T
ENST00000641748.1:c.1164G>T	ENSP00000493330.1:p.Lys388Asn
ENST00000641753.1:c.991G>T
ENST00000641774.1:c.*416G>T	ENSP00000492960.1:n.*416G>T
ENST00000641830.1:c.396G>T
ENST00000641843.1:c.*225G>T	ENSP00000493174.1:n.*225G>T
ENST00000641869.1:c.365G>T
ENST00000641870.1:c.*225G>T	ENSP00000493044.1:n.*225G>T
ENST00000641882.1:c.*329G>T	ENSP00000493301.1:n.*329G>T
ENST00000641928.1:c.*293G>T	ENSP00000493418.1:n.*293G>T
ENST00000641949.1:c.554-874G>T	ENSP00000492891.1:n.554-874G>T
ENST00000642012.1:n.1028G>T
ENST00000642034.1:c.*49G>T	ENSP00000493285.1:n.*49G>T
ENST00000642042.1:c.1164G>T	ENSP00000493260.1:p.Lys388Asn
ENST00000642078.1:c.*225G>T	ENSP00000492885.1:n.*225G>T
ENST00000296468.7:c.1164G>T	ENSP00000296468.3:p.Lys388Asn
ENST00000504126.1:n.192G>T
ENST00000513559.5:c.1029G>T	ENSP00000425000.1:p.Lys343Asn
ENST00000515130.5:n.1506G>T
NM_152778.2:c.1164G>T	NP_689991.1:p.Lys388Asn
XM_005262893.1:c.1164G>T	XP_005262950.1:p.Lys388Asn
XM_005262896.1:c.1017G>T	XP_005262953.1:p.Lys339Asn
XM_005262897.1:c.963G>T	XP_005262954.1:p.Lys321Asn
XM_005262898.2:c.*49G>T	XP_005262955.1:n.*49G>T
XM_011531830.1:c.1050G>T	XP_011530132.1:p.Lys350Asn
XM_011531831.1:c.849G>T	XP_011530133.1:p.Lys283Asn
XM_011531832.1:c.*49G>T	XP_011530134.1:n.*49G>T
XR_938717.1:n.1241G>T
NM_001363520.1:c.963G>T	NP_001350449.1:p.Lys321Asn
NM_001363521.1:c.849G>T	NP_001350450.1:p.Lys283Asn
XM_005262898.3:c.*49G>T	XP_005262955.1:n.*49G>T
XM_017007989.1:c.*49G>T	XP_016863478.1:n.*49G>T
XM_024453981.1:c.1029G>T	XP_024309749.1:p.Lys343Asn
XM_024453982.1:c.915G>T	XP_024309750.1:p.Lys305Asn
XM_024453983.1:c.714G>T	XP_024309751.1:p.Lys238Asn
XR_001741194.1:n.1137G>T
XR_001741195.1:n.1023G>T
XR_001741196.1:n.936G>T
XR_001741197.1:n.1096G>T
XR_001741198.2:n.992G>T
XR_001741199.1:n.992G>T
XR_938717.2:n.1241G>T
NM_001363520.2:c.963G>T	NP_001350449.1:p.Lys321Asn
NM_001363521.2:c.849G>T	NP_001350450.1:p.Lys283Asn
NM_001371590.1:c.1029G>T	NP_001358519.1:p.Lys343Asn
NM_001371591.1:c.1164G>T	NP_001358520.1:p.Lys388Asn
NM_001371592.1:c.1170G>T	NP_001358521.1:p.Lys390Asn
NM_001371593.1:c.1050G>T	NP_001358522.1:p.Lys350Asn
NM_001371594.1:c.1017G>T	NP_001358523.1:p.Lys339Asn
NM_001371595.1:c.882G>T	NP_001358524.1:p.Lys294Asn
NM_001371596.2:c.1164G>T MANE Select	NP_001358525.1:p.Lys388Asn
NM_152778.3:c.1164G>T	NP_689991.1:p.Lys388Asn
NM_152778.4:c.1164G>T	NP_689991.1:p.Lys388Asn