Canonical Allele Identifier: CA358171534

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128842923A>C (hg19) ; chr4:g.127921768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921768A>C , CM000666.2:g.127921768A>C	GRCh38
NC_000004.11:g.128842923A>C , CM000666.1:g.128842923A>C	GRCh37
NC_000004.10:g.129062373A>C	NCBI36
NG_008657.1:g.49217T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1106T>G	ENSP00000296468.3:p.Leu369Trp
ENST00000509826.2:c.*427T>G	ENSP00000421176.2:n.*427T>G
ENST00000513559.6:c.824T>G	ENSP00000425000.2:p.Leu275Trp
ENST00000515130.6:c.867T>G	ENSP00000493056.1:p.Phe289Leu
ENST00000641025.1:c.1002T>G	ENSP00000493346.1:p.Phe334Leu
ENST00000641092.1:c.801T>G	ENSP00000493392.1:p.Phe267Leu
ENST00000641133.1:c.*420T>G	ENSP00000493192.1:n.*420T>G
ENST00000641146.1:n.972T>G
ENST00000641147.1:c.656T>G	ENSP00000493133.1:p.Leu219Trp
ENST00000641178.1:c.971T>G	ENSP00000492989.1:p.Leu324Trp
ENST00000641186.1:c.992T>G	ENSP00000493347.1:p.Leu331Trp
ENST00000641228.1:c.801T>G	ENSP00000493194.1:p.Phe267Leu
ENST00000641332.1:c.*167T>G	ENSP00000493397.1:n.*167T>G
ENST00000641340.1:c.*235T>G	ENSP00000493191.1:n.*235T>G
ENST00000641388.1:n.353T>G
ENST00000641393.1:c.656T>G	ENSP00000493197.1:p.Leu219Trp
ENST00000641397.1:c.687T>G	ENSP00000493406.1:p.Phe229Leu
ENST00000641413.1:c.31T>G
ENST00000641434.1:c.1106T>G	ENSP00000493279.1:p.Leu369Trp
ENST00000641464.1:c.*339T>G	ENSP00000493438.1:n.*339T>G
ENST00000641482.1:c.1002T>G	ENSP00000493277.1:p.Phe334Leu
ENST00000641508.1:c.*339T>G	ENSP00000493209.1:n.*339T>G
ENST00000641509.1:c.791T>G	ENSP00000493459.1:p.Leu264Trp
ENST00000641590.1:c.888T>G	ENSP00000493132.1:p.Phe296Leu
ENST00000641658.1:c.*271T>G	ENSP00000492987.1:n.*271T>G
ENST00000641686.2:c.1106T>G MANE Select	ENSP00000493218.2:p.Leu369Trp
ENST00000641690.1:c.905T>G	ENSP00000492966.1:p.Leu302Trp
ENST00000641742.1:c.*271T>G	ENSP00000493315.1:n.*271T>G
ENST00000641748.1:c.1106T>G	ENSP00000493330.1:p.Leu369Trp
ENST00000641753.1:c.933T>G
ENST00000641774.1:c.*358T>G	ENSP00000492960.1:n.*358T>G
ENST00000641830.1:c.338T>G
ENST00000641843.1:c.*167T>G	ENSP00000493174.1:n.*167T>G
ENST00000641869.1:c.307T>G
ENST00000641870.1:c.*167T>G	ENSP00000493044.1:n.*167T>G
ENST00000641882.1:c.*271T>G	ENSP00000493301.1:n.*271T>G
ENST00000641928.1:c.*235T>G	ENSP00000493418.1:n.*235T>G
ENST00000641949.1:c.554-932T>G	ENSP00000492891.1:n.554-932T>G
ENST00000642012.1:n.970T>G
ENST00000642034.1:c.888T>G	ENSP00000493285.1:p.Phe296Leu
ENST00000642042.1:c.1106T>G	ENSP00000493260.1:p.Leu369Trp
ENST00000642078.1:c.*167T>G	ENSP00000492885.1:n.*167T>G
ENST00000296468.7:c.1106T>G	ENSP00000296468.3:p.Leu369Trp
ENST00000504126.1:n.134T>G
ENST00000505284.5:n.897T>G
ENST00000513559.5:c.971T>G	ENSP00000425000.1:p.Leu324Trp
ENST00000515130.5:n.1448T>G
NM_152778.2:c.1106T>G	NP_689991.1:p.Leu369Trp
XM_005262893.1:c.1106T>G	XP_005262950.1:p.Leu369Trp
XM_005262896.1:c.959T>G	XP_005262953.1:p.Leu320Trp
XM_005262897.1:c.905T>G	XP_005262954.1:p.Leu302Trp
XM_005262898.2:c.1002T>G	XP_005262955.1:p.Phe334Leu
XM_011531830.1:c.992T>G	XP_011530132.1:p.Leu331Trp
XM_011531831.1:c.791T>G	XP_011530133.1:p.Leu264Trp
XM_011531832.1:c.888T>G	XP_011530134.1:p.Phe296Leu
XR_938717.1:n.1183T>G
NM_001363520.1:c.905T>G	NP_001350449.1:p.Leu302Trp
NM_001363521.1:c.791T>G	NP_001350450.1:p.Leu264Trp
XM_005262898.3:c.1002T>G	XP_005262955.1:p.Phe334Leu
XM_017007989.1:c.801T>G	XP_016863478.1:p.Phe267Leu
XM_024453981.1:c.971T>G	XP_024309749.1:p.Leu324Trp
XM_024453982.1:c.857T>G	XP_024309750.1:p.Leu286Trp
XM_024453983.1:c.656T>G	XP_024309751.1:p.Leu219Trp
XR_001741194.1:n.1079T>G
XR_001741195.1:n.965T>G
XR_001741196.1:n.878T>G
XR_001741197.1:n.1038T>G
XR_001741198.2:n.934T>G
XR_001741199.1:n.934T>G
XR_938717.2:n.1183T>G
NM_001363520.2:c.905T>G	NP_001350449.1:p.Leu302Trp
NM_001363521.2:c.791T>G	NP_001350450.1:p.Leu264Trp
NM_001371590.1:c.971T>G	NP_001358519.1:p.Leu324Trp
NM_001371591.1:c.1106T>G	NP_001358520.1:p.Leu369Trp
NM_001371592.1:c.1112T>G	NP_001358521.1:p.Leu371Trp
NM_001371593.1:c.992T>G	NP_001358522.1:p.Leu331Trp
NM_001371594.1:c.959T>G	NP_001358523.1:p.Leu320Trp
NM_001371595.1:c.824T>G	NP_001358524.1:p.Leu275Trp
NM_001371596.2:c.1106T>G MANE Select	NP_001358525.1:p.Leu369Trp
NM_152778.3:c.1106T>G	NP_689991.1:p.Leu369Trp
NM_152778.4:c.1106T>G	NP_689991.1:p.Leu369Trp