Canonical Allele Identifier: CA358171520

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 1360808
• ClinVar RCV Id: RCV001907201
• dbSNP Id: rs1578794999
• MyVariant Identifiers: chr4:g.128842920T>A (hg19) ; chr4:g.127921765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921765T>A , CM000666.2:g.127921765T>A	GRCh38
NC_000004.11:g.128842920T>A , CM000666.1:g.128842920T>A	GRCh37
NC_000004.10:g.129062370T>A	NCBI36
NG_008657.1:g.49220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1109A>T	ENSP00000296468.3:p.His370Leu
ENST00000509826.2:c.*430A>T	ENSP00000421176.2:n.*430A>T
ENST00000513559.6:c.827A>T	ENSP00000425000.2:p.His276Leu
ENST00000515130.6:c.870A>T	ENSP00000493056.1:p.Ala290=
ENST00000641025.1:c.1005A>T	ENSP00000493346.1:p.Ala335=
ENST00000641092.1:c.804A>T	ENSP00000493392.1:p.Ala268=
ENST00000641133.1:c.*423A>T	ENSP00000493192.1:n.*423A>T
ENST00000641146.1:n.975A>T
ENST00000641147.1:c.659A>T	ENSP00000493133.1:p.His220Leu
ENST00000641178.1:c.974A>T	ENSP00000492989.1:p.His325Leu
ENST00000641186.1:c.995A>T	ENSP00000493347.1:p.His332Leu
ENST00000641228.1:c.804A>T	ENSP00000493194.1:p.Ala268=
ENST00000641332.1:c.*170A>T	ENSP00000493397.1:n.*170A>T
ENST00000641340.1:c.*238A>T	ENSP00000493191.1:n.*238A>T
ENST00000641388.1:n.356A>T
ENST00000641393.1:c.659A>T	ENSP00000493197.1:p.His220Leu
ENST00000641397.1:c.690A>T	ENSP00000493406.1:p.Ala230=
ENST00000641413.1:c.34A>T
ENST00000641434.1:c.1109A>T	ENSP00000493279.1:p.His370Leu
ENST00000641464.1:c.*342A>T	ENSP00000493438.1:n.*342A>T
ENST00000641482.1:c.1005A>T	ENSP00000493277.1:p.Ala335=
ENST00000641508.1:c.*342A>T	ENSP00000493209.1:n.*342A>T
ENST00000641509.1:c.794A>T	ENSP00000493459.1:p.His265Leu
ENST00000641590.1:c.891A>T	ENSP00000493132.1:p.Ala297=
ENST00000641658.1:c.*274A>T	ENSP00000492987.1:n.*274A>T
ENST00000641686.2:c.1109A>T MANE Select	ENSP00000493218.2:p.His370Leu
ENST00000641690.1:c.908A>T	ENSP00000492966.1:p.His303Leu
ENST00000641742.1:c.*274A>T	ENSP00000493315.1:n.*274A>T
ENST00000641748.1:c.1109A>T	ENSP00000493330.1:p.His370Leu
ENST00000641753.1:c.936A>T
ENST00000641774.1:c.*361A>T	ENSP00000492960.1:n.*361A>T
ENST00000641830.1:c.341A>T
ENST00000641843.1:c.*170A>T	ENSP00000493174.1:n.*170A>T
ENST00000641869.1:c.310A>T
ENST00000641870.1:c.*170A>T	ENSP00000493044.1:n.*170A>T
ENST00000641882.1:c.*274A>T	ENSP00000493301.1:n.*274A>T
ENST00000641928.1:c.*238A>T	ENSP00000493418.1:n.*238A>T
ENST00000641949.1:c.554-929A>T	ENSP00000492891.1:n.554-929A>T
ENST00000642012.1:n.973A>T
ENST00000642034.1:c.891A>T	ENSP00000493285.1:p.Ala297=
ENST00000642042.1:c.1109A>T	ENSP00000493260.1:p.His370Leu
ENST00000642078.1:c.*170A>T	ENSP00000492885.1:n.*170A>T
ENST00000296468.7:c.1109A>T	ENSP00000296468.3:p.His370Leu
ENST00000504126.1:n.137A>T
ENST00000505284.5:n.900A>T
ENST00000513559.5:c.974A>T	ENSP00000425000.1:p.His325Leu
ENST00000515130.5:n.1451A>T
NM_152778.2:c.1109A>T	NP_689991.1:p.His370Leu
XM_005262893.1:c.1109A>T	XP_005262950.1:p.His370Leu
XM_005262896.1:c.962A>T	XP_005262953.1:p.His321Leu
XM_005262897.1:c.908A>T	XP_005262954.1:p.His303Leu
XM_005262898.2:c.1005A>T	XP_005262955.1:p.Ala335=
XM_011531830.1:c.995A>T	XP_011530132.1:p.His332Leu
XM_011531831.1:c.794A>T	XP_011530133.1:p.His265Leu
XM_011531832.1:c.891A>T	XP_011530134.1:p.Ala297=
XR_938717.1:n.1186A>T
NM_001363520.1:c.908A>T	NP_001350449.1:p.His303Leu
NM_001363521.1:c.794A>T	NP_001350450.1:p.His265Leu
XM_005262898.3:c.1005A>T	XP_005262955.1:p.Ala335=
XM_017007989.1:c.804A>T	XP_016863478.1:p.Ala268=
XM_024453981.1:c.974A>T	XP_024309749.1:p.His325Leu
XM_024453982.1:c.860A>T	XP_024309750.1:p.His287Leu
XM_024453983.1:c.659A>T	XP_024309751.1:p.His220Leu
XR_001741194.1:n.1082A>T
XR_001741195.1:n.968A>T
XR_001741196.1:n.881A>T
XR_001741197.1:n.1041A>T
XR_001741198.2:n.937A>T
XR_001741199.1:n.937A>T
XR_938717.2:n.1186A>T
NM_001363520.2:c.908A>T	NP_001350449.1:p.His303Leu
NM_001363521.2:c.794A>T	NP_001350450.1:p.His265Leu
NM_001371590.1:c.974A>T	NP_001358519.1:p.His325Leu
NM_001371591.1:c.1109A>T	NP_001358520.1:p.His370Leu
NM_001371592.1:c.1115A>T	NP_001358521.1:p.His372Leu
NM_001371593.1:c.995A>T	NP_001358522.1:p.His332Leu
NM_001371594.1:c.962A>T	NP_001358523.1:p.His321Leu
NM_001371595.1:c.827A>T	NP_001358524.1:p.His276Leu
NM_001371596.2:c.1109A>T MANE Select	NP_001358525.1:p.His370Leu
NM_152778.3:c.1109A>T	NP_689991.1:p.His370Leu
NM_152778.4:c.1109A>T	NP_689991.1:p.His370Leu