Canonical Allele Identifier: CA358175214

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128859958T>A (hg19) ; chr4:g.127938803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938803T>A , CM000666.2:g.127938803T>A	GRCh38
NC_000004.11:g.128859958T>A , CM000666.1:g.128859958T>A	GRCh37
NC_000004.10:g.129079408T>A	NCBI36
NG_008657.1:g.32182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.734A>T	ENSP00000296468.3:p.Lys245Ile
ENST00000505284.6:n.950A>T
ENST00000509826.2:c.698+1050A>T	ENSP00000421176.2:n.698+1050A>T
ENST00000513559.6:c.452A>T	ENSP00000425000.2:p.Lys151Ile
ENST00000515130.6:c.599A>T	ENSP00000493056.1:p.Lys200Ile
ENST00000641025.1:c.734A>T	ENSP00000493346.1:p.Lys245Ile
ENST00000641092.1:c.553+3242A>T	ENSP00000493392.1:n.553+3242A>T
ENST00000641133.1:c.*48A>T	ENSP00000493192.1:n.*48A>T
ENST00000641134.1:c.454A>T	ENSP00000492925.1:p.Lys152Ter
ENST00000641147.1:c.304+4949A>T	ENSP00000493133.1:n.304+4949A>T
ENST00000641178.1:c.599A>T	ENSP00000492989.1:p.Lys200Ile
ENST00000641186.1:c.620A>T	ENSP00000493347.1:p.Lys207Ile
ENST00000641228.1:c.553+3242A>T	ENSP00000493194.1:n.553+3242A>T
ENST00000641243.1:c.589A>T	ENSP00000493083.1:p.Lys197Ter
ENST00000641264.1:c.*531A>T	ENSP00000492908.1:n.*531A>T
ENST00000641332.1:c.589A>T	ENSP00000493397.1:p.Lys197Ter
ENST00000641340.1:c.698+1050A>T	ENSP00000493191.1:n.698+1050A>T
ENST00000641369.1:c.230A>T	ENSP00000493037.1:p.Lys77Ile
ENST00000641393.1:c.304+4949A>T	ENSP00000493197.1:n.304+4949A>T
ENST00000641397.1:c.439+4949A>T	ENSP00000493406.1:n.439+4949A>T
ENST00000641434.1:c.734A>T	ENSP00000493279.1:p.Lys245Ile
ENST00000641464.1:c.449+1050A>T	ENSP00000493438.1:n.449+1050A>T
ENST00000641482.1:c.734A>T	ENSP00000493277.1:p.Lys245Ile
ENST00000641503.1:c.620A>T	ENSP00000493304.1:p.Lys207Ile
ENST00000641508.1:c.698+1050A>T	ENSP00000493209.1:n.698+1050A>T
ENST00000641509.1:c.439+4949A>T	ENSP00000493459.1:n.439+4949A>T
ENST00000641538.1:c.580A>T
ENST00000641590.1:c.620A>T	ENSP00000493132.1:p.Lys207Ile
ENST00000641658.1:c.454A>T	ENSP00000492987.1:p.Lys152Ter
ENST00000641686.2:c.734A>T MANE Select	ENSP00000493218.2:p.Lys245Ile
ENST00000641690.1:c.553+3242A>T	ENSP00000492966.1:n.553+3242A>T
ENST00000641695.1:c.*18A>T	ENSP00000493134.1:n.*18A>T
ENST00000641742.1:c.589A>T	ENSP00000493315.1:p.Lys197Ter
ENST00000641743.1:c.734A>T	ENSP00000493130.1:p.Lys245Ile
ENST00000641748.1:c.734A>T	ENSP00000493330.1:p.Lys245Ile
ENST00000641753.1:c.561A>T
ENST00000641774.1:c.584+1050A>T	ENSP00000492960.1:n.584+1050A>T
ENST00000641776.1:c.*286A>T	ENSP00000493261.1:n.*286A>T
ENST00000641830.1:c.70A>T
ENST00000641843.1:c.340A>T	ENSP00000493174.1:p.Lys114Ter
ENST00000641869.1:c.39A>T
ENST00000641870.1:c.589A>T	ENSP00000493044.1:p.Lys197Ter
ENST00000641882.1:c.475A>T	ENSP00000493301.1:p.Lys159Ter
ENST00000641928.1:c.449+1050A>T	ENSP00000493418.1:n.449+1050A>T
ENST00000641949.1:c.553+3242A>T	ENSP00000492891.1:n.553+3242A>T
ENST00000642012.1:n.598A>T
ENST00000642034.1:c.620A>T	ENSP00000493285.1:p.Lys207Ile
ENST00000642042.1:c.734A>T	ENSP00000493260.1:p.Lys245Ile
ENST00000642078.1:c.454A>T	ENSP00000492885.1:p.Lys152Ter
ENST00000642121.1:n.91-7986A>T
ENST00000296468.7:c.734A>T	ENSP00000296468.3:p.Lys245Ile
ENST00000505284.5:n.629A>T
ENST00000508441.1:n.601A>T
ENST00000509826.1:c.449+1050A>T	ENSP00000421176.1:n.449+1050A>T
ENST00000513559.5:c.599A>T	ENSP00000425000.1:p.Lys200Ile
ENST00000515130.5:n.1180A>T
NM_152778.2:c.734A>T	NP_689991.1:p.Lys245Ile
XM_005262893.1:c.734A>T	XP_005262950.1:p.Lys245Ile
XM_005262896.1:c.587A>T	XP_005262953.1:p.Lys196Ile
XM_005262897.1:c.553+3242A>T	XP_005262954.1:n.553+3242A>T
XM_005262898.2:c.734A>T	XP_005262955.1:p.Lys245Ile
XM_005262900.2:c.589A>T	XP_005262957.1:p.Lys197Ter
XM_011531830.1:c.620A>T	XP_011530132.1:p.Lys207Ile
XM_011531831.1:c.439+4949A>T	XP_011530133.1:n.439+4949A>T
XM_011531832.1:c.620A>T	XP_011530134.1:p.Lys207Ile
XR_938717.1:n.811A>T
NM_001363520.1:c.553+3242A>T	NP_001350449.1:n.553+3242A>T
NM_001363521.1:c.439+4949A>T	NP_001350450.1:n.439+4949A>T
XM_005262898.3:c.734A>T	XP_005262955.1:p.Lys245Ile
XM_017007989.1:c.553+3242A>T	XP_016863478.1:n.553+3242A>T
XM_024453981.1:c.599A>T	XP_024309749.1:p.Lys200Ile
XM_024453982.1:c.485A>T	XP_024309750.1:p.Lys162Ile
XM_024453983.1:c.304+4949A>T	XP_024309751.1:n.304+4949A>T
XR_001741194.1:n.811A>T
XR_001741195.1:n.697A>T
XR_001741196.1:n.630+3242A>T
XR_001741197.1:n.666A>T
XR_001741198.2:n.666A>T
XR_001741199.1:n.666A>T
XR_938717.2:n.811A>T
NM_001363520.2:c.553+3242A>T	NP_001350449.1:n.553+3242A>T
NM_001363521.2:c.439+4949A>T	NP_001350450.1:n.439+4949A>T
NM_001371590.1:c.599A>T	NP_001358519.1:p.Lys200Ile
NM_001371591.1:c.734A>T	NP_001358520.1:p.Lys245Ile
NM_001371592.1:c.740A>T	NP_001358521.1:p.Lys247Ile
NM_001371593.1:c.620A>T	NP_001358522.1:p.Lys207Ile
NM_001371594.1:c.587A>T	NP_001358523.1:p.Lys196Ile
NM_001371595.1:c.452A>T	NP_001358524.1:p.Lys151Ile
NM_001371596.2:c.734A>T MANE Select	NP_001358525.1:p.Lys245Ile
NM_152778.3:c.734A>T	NP_689991.1:p.Lys245Ile
NM_152778.4:c.734A>T	NP_689991.1:p.Lys245Ile