Canonical Allele Identifier: CA441375866

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 2826300
• ClinVar RCV Id: RCV003601782
• MyVariant Identifiers: chr4:g.128842706A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921551A>G , CM000666.2:g.127921551A>G	GRCh38
NC_000004.11:g.128842706A>G , CM000666.1:g.128842706A>G	GRCh37
NC_000004.10:g.129062156A>G	NCBI36
NG_008657.1:g.49434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1323T>C	ENSP00000296468.3:p.Tyr441=
ENST00000509826.2:c.*644T>C	ENSP00000421176.2:n.*644T>C
ENST00000513559.6:c.1041T>C	ENSP00000425000.2:p.Tyr347=
ENST00000515130.6:c.*208T>C	ENSP00000493056.1:n.*208T>C
ENST00000641025.1:c.*208T>C	ENSP00000493346.1:n.*208T>C
ENST00000641092.1:c.*208T>C	ENSP00000493392.1:n.*208T>C
ENST00000641133.1:c.*637T>C	ENSP00000493192.1:n.*637T>C
ENST00000641146.1:n.1189T>C
ENST00000641147.1:c.873T>C	ENSP00000493133.1:p.Tyr291=
ENST00000641178.1:c.1188T>C	ENSP00000492989.1:p.Tyr396=
ENST00000641186.1:c.1209T>C	ENSP00000493347.1:p.Tyr403=
ENST00000641228.1:c.*208T>C	ENSP00000493194.1:n.*208T>C
ENST00000641332.1:c.*384T>C	ENSP00000493397.1:n.*384T>C
ENST00000641340.1:c.*452T>C	ENSP00000493191.1:n.*452T>C
ENST00000641388.1:n.570T>C
ENST00000641393.1:c.873T>C	ENSP00000493197.1:p.Tyr291=
ENST00000641397.1:c.*208T>C	ENSP00000493406.1:n.*208T>C
ENST00000641413.1:c.248T>C
ENST00000641434.1:c.1323T>C	ENSP00000493279.1:p.Tyr441=
ENST00000641464.1:c.*556T>C	ENSP00000493438.1:n.*556T>C
ENST00000641482.1:c.*208T>C	ENSP00000493277.1:n.*208T>C
ENST00000641508.1:c.*556T>C	ENSP00000493209.1:n.*556T>C
ENST00000641509.1:c.1008T>C	ENSP00000493459.1:p.Tyr336=
ENST00000641590.1:c.*208T>C	ENSP00000493132.1:n.*208T>C
ENST00000641658.1:c.*488T>C	ENSP00000492987.1:n.*488T>C
ENST00000641686.2:c.1323T>C MANE Select	ENSP00000493218.2:p.Tyr441=
ENST00000641690.1:c.1122T>C	ENSP00000492966.1:p.Tyr374=
ENST00000641742.1:c.*488T>C	ENSP00000493315.1:n.*488T>C
ENST00000641748.1:c.1323T>C	ENSP00000493330.1:p.Tyr441=
ENST00000641753.1:c.1150T>C
ENST00000641774.1:c.*575T>C	ENSP00000492960.1:n.*575T>C
ENST00000641830.1:c.555T>C
ENST00000641843.1:c.*384T>C	ENSP00000493174.1:n.*384T>C
ENST00000641869.1:c.524T>C
ENST00000641870.1:c.*384T>C	ENSP00000493044.1:n.*384T>C
ENST00000641882.1:c.*488T>C	ENSP00000493301.1:n.*488T>C
ENST00000641928.1:c.*452T>C	ENSP00000493418.1:n.*452T>C
ENST00000641949.1:c.554-715T>C	ENSP00000492891.1:n.554-715T>C
ENST00000642012.1:n.1187T>C
ENST00000642034.1:c.*208T>C	ENSP00000493285.1:n.*208T>C
ENST00000642042.1:c.1323T>C	ENSP00000493260.1:p.Tyr441=
ENST00000642078.1:c.*384T>C	ENSP00000492885.1:n.*384T>C
ENST00000296468.7:c.1323T>C	ENSP00000296468.3:p.Tyr441=
ENST00000504126.1:n.351T>C
ENST00000513559.5:c.1188T>C	ENSP00000425000.1:p.Tyr396=
ENST00000515130.5:n.1665T>C
NM_152778.2:c.1323T>C	NP_689991.1:p.Tyr441=
XM_005262893.1:c.1323T>C	XP_005262950.1:p.Tyr441=
XM_005262896.1:c.1176T>C	XP_005262953.1:p.Tyr392=
XM_005262897.1:c.1122T>C	XP_005262954.1:p.Tyr374=
XM_005262898.2:c.*208T>C	XP_005262955.1:n.*208T>C
XM_011531830.1:c.1209T>C	XP_011530132.1:p.Tyr403=
XM_011531831.1:c.1008T>C	XP_011530133.1:p.Tyr336=
XM_011531832.1:c.*208T>C	XP_011530134.1:n.*208T>C
XR_938717.1:n.1400T>C
NM_001363520.1:c.1122T>C	NP_001350449.1:p.Tyr374=
NM_001363521.1:c.1008T>C	NP_001350450.1:p.Tyr336=
XM_005262898.3:c.*208T>C	XP_005262955.1:n.*208T>C
XM_017007989.1:c.*208T>C	XP_016863478.1:n.*208T>C
XM_024453981.1:c.1188T>C	XP_024309749.1:p.Tyr396=
XM_024453982.1:c.1074T>C	XP_024309750.1:p.Tyr358=
XM_024453983.1:c.873T>C	XP_024309751.1:p.Tyr291=
XR_001741194.1:n.1296T>C
XR_001741195.1:n.1182T>C
XR_001741196.1:n.1095T>C
XR_001741197.1:n.1255T>C
XR_001741198.2:n.1151T>C
XR_001741199.1:n.1151T>C
XR_938717.2:n.1400T>C
NM_001363520.2:c.1122T>C	NP_001350449.1:p.Tyr374=
NM_001363521.2:c.1008T>C	NP_001350450.1:p.Tyr336=
NM_001371590.1:c.1188T>C	NP_001358519.1:p.Tyr396=
NM_001371591.1:c.1323T>C	NP_001358520.1:p.Tyr441=
NM_001371592.1:c.1329T>C	NP_001358521.1:p.Tyr443=
NM_001371593.1:c.1209T>C	NP_001358522.1:p.Tyr403=
NM_001371594.1:c.1176T>C	NP_001358523.1:p.Tyr392=
NM_001371595.1:c.1041T>C	NP_001358524.1:p.Tyr347=
NM_001371596.2:c.1323T>C MANE Select	NP_001358525.1:p.Tyr441=
NM_152778.3:c.1323T>C	NP_689991.1:p.Tyr441=
NM_152778.4:c.1323T>C	NP_689991.1:p.Tyr441=