Canonical Allele Identifier: CA358171721

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128843036A>G (hg19) ; chr4:g.127921881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921881A>G , CM000666.2:g.127921881A>G	GRCh38
NC_000004.11:g.128843036A>G , CM000666.1:g.128843036A>G	GRCh37
NC_000004.10:g.129062486A>G	NCBI36
NG_008657.1:g.49104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1081T>C	ENSP00000296468.3:p.Phe361Leu
ENST00000509826.2:c.*314T>C	ENSP00000421176.2:n.*314T>C
ENST00000513559.6:c.799T>C	ENSP00000425000.2:p.Phe267Leu
ENST00000515130.6:c.864-110T>C	ENSP00000493056.1:n.864-110T>C
ENST00000641025.1:c.999-110T>C	ENSP00000493346.1:n.999-110T>C
ENST00000641092.1:c.798-110T>C	ENSP00000493392.1:n.798-110T>C
ENST00000641133.1:c.*395T>C	ENSP00000493192.1:n.*395T>C
ENST00000641146.1:n.947T>C
ENST00000641147.1:c.631T>C	ENSP00000493133.1:p.Phe211Leu
ENST00000641178.1:c.946T>C	ENSP00000492989.1:p.Phe316Leu
ENST00000641186.1:c.967T>C	ENSP00000493347.1:p.Phe323Leu
ENST00000641228.1:c.798-110T>C	ENSP00000493194.1:n.798-110T>C
ENST00000641332.1:c.*164-110T>C	ENSP00000493397.1:n.*164-110T>C
ENST00000641340.1:c.*232-110T>C	ENSP00000493191.1:n.*232-110T>C
ENST00000641388.1:n.350-110T>C
ENST00000641393.1:c.631T>C	ENSP00000493197.1:p.Phe211Leu
ENST00000641397.1:c.684-110T>C	ENSP00000493406.1:n.684-110T>C
ENST00000641413.1:c.28-110T>C
ENST00000641434.1:c.1081T>C	ENSP00000493279.1:p.Phe361Leu
ENST00000641464.1:c.*314T>C	ENSP00000493438.1:n.*314T>C
ENST00000641482.1:c.999-110T>C	ENSP00000493277.1:n.999-110T>C
ENST00000641508.1:c.*314T>C	ENSP00000493209.1:n.*314T>C
ENST00000641509.1:c.766T>C	ENSP00000493459.1:p.Phe256Leu
ENST00000641590.1:c.885-110T>C	ENSP00000493132.1:n.885-110T>C
ENST00000641658.1:c.*246T>C	ENSP00000492987.1:n.*246T>C
ENST00000641686.2:c.1081T>C MANE Select	ENSP00000493218.2:p.Phe361Leu
ENST00000641690.1:c.880T>C	ENSP00000492966.1:p.Phe294Leu
ENST00000641742.1:c.*246T>C	ENSP00000493315.1:n.*246T>C
ENST00000641748.1:c.1081T>C	ENSP00000493330.1:p.Phe361Leu
ENST00000641753.1:c.908T>C
ENST00000641774.1:c.*333T>C	ENSP00000492960.1:n.*333T>C
ENST00000641830.1:c.335-110T>C
ENST00000641843.1:c.*164-110T>C	ENSP00000493174.1:n.*164-110T>C
ENST00000641869.1:c.304-110T>C
ENST00000641870.1:c.*164-110T>C	ENSP00000493044.1:n.*164-110T>C
ENST00000641882.1:c.*246T>C	ENSP00000493301.1:n.*246T>C
ENST00000641928.1:c.*232-110T>C	ENSP00000493418.1:n.*232-110T>C
ENST00000641949.1:c.554-1045T>C	ENSP00000492891.1:n.554-1045T>C
ENST00000642012.1:n.945T>C
ENST00000642034.1:c.885-110T>C	ENSP00000493285.1:n.885-110T>C
ENST00000642042.1:c.1081T>C	ENSP00000493260.1:p.Phe361Leu
ENST00000642078.1:c.*164-110T>C	ENSP00000492885.1:n.*164-110T>C
ENST00000296468.7:c.1081T>C	ENSP00000296468.3:p.Phe361Leu
ENST00000504126.1:n.109T>C
ENST00000505284.5:n.894-110T>C
ENST00000509826.1:c.*314T>C	ENSP00000421176.1:n.*314T>C
ENST00000513559.5:c.946T>C	ENSP00000425000.1:p.Phe316Leu
ENST00000515130.5:n.1445-110T>C
NM_152778.2:c.1081T>C	NP_689991.1:p.Phe361Leu
XM_005262893.1:c.1081T>C	XP_005262950.1:p.Phe361Leu
XM_005262896.1:c.934T>C	XP_005262953.1:p.Phe312Leu
XM_005262897.1:c.880T>C	XP_005262954.1:p.Phe294Leu
XM_005262898.2:c.999-110T>C	XP_005262955.1:n.999-110T>C
XM_011531830.1:c.967T>C	XP_011530132.1:p.Phe323Leu
XM_011531831.1:c.766T>C	XP_011530133.1:p.Phe256Leu
XM_011531832.1:c.885-110T>C	XP_011530134.1:n.885-110T>C
XR_938717.1:n.1158T>C
NM_001363520.1:c.880T>C	NP_001350449.1:p.Phe294Leu
NM_001363521.1:c.766T>C	NP_001350450.1:p.Phe256Leu
XM_005262898.3:c.999-110T>C	XP_005262955.1:n.999-110T>C
XM_017007989.1:c.798-110T>C	XP_016863478.1:n.798-110T>C
XM_024453981.1:c.946T>C	XP_024309749.1:p.Phe316Leu
XM_024453982.1:c.832T>C	XP_024309750.1:p.Phe278Leu
XM_024453983.1:c.631T>C	XP_024309751.1:p.Phe211Leu
XR_001741194.1:n.1076-110T>C
XR_001741195.1:n.962-110T>C
XR_001741196.1:n.875-110T>C
XR_001741197.1:n.1013T>C
XR_001741198.2:n.931-110T>C
XR_001741199.1:n.931-110T>C
XR_938717.2:n.1158T>C
NM_001363520.2:c.880T>C	NP_001350449.1:p.Phe294Leu
NM_001363521.2:c.766T>C	NP_001350450.1:p.Phe256Leu
NM_001371590.1:c.946T>C	NP_001358519.1:p.Phe316Leu
NM_001371591.1:c.1081T>C	NP_001358520.1:p.Phe361Leu
NM_001371592.1:c.1087T>C	NP_001358521.1:p.Phe363Leu
NM_001371593.1:c.967T>C	NP_001358522.1:p.Phe323Leu
NM_001371594.1:c.934T>C	NP_001358523.1:p.Phe312Leu
NM_001371595.1:c.799T>C	NP_001358524.1:p.Phe267Leu
NM_001371596.2:c.1081T>C MANE Select	NP_001358525.1:p.Phe361Leu
NM_152778.3:c.1081T>C	NP_689991.1:p.Phe361Leu
NM_152778.4:c.1081T>C	NP_689991.1:p.Phe361Leu