Canonical Allele Identifier: CA358171506

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128842918T>A (hg19) ; chr4:g.127921763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921763T>A , CM000666.2:g.127921763T>A	GRCh38
NC_000004.11:g.128842918T>A , CM000666.1:g.128842918T>A	GRCh37
NC_000004.10:g.129062368T>A	NCBI36
NG_008657.1:g.49222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1111A>T	ENSP00000296468.3:p.Asn371Tyr
ENST00000509826.2:c.*432A>T	ENSP00000421176.2:n.*432A>T
ENST00000513559.6:c.829A>T	ENSP00000425000.2:p.Asn277Tyr
ENST00000515130.6:c.872A>T	ENSP00000493056.1:p.Gln291Leu
ENST00000641025.1:c.1007A>T	ENSP00000493346.1:p.Gln336Leu
ENST00000641092.1:c.806A>T	ENSP00000493392.1:p.Gln269Leu
ENST00000641133.1:c.*425A>T	ENSP00000493192.1:n.*425A>T
ENST00000641146.1:n.977A>T
ENST00000641147.1:c.661A>T	ENSP00000493133.1:p.Asn221Tyr
ENST00000641178.1:c.976A>T	ENSP00000492989.1:p.Asn326Tyr
ENST00000641186.1:c.997A>T	ENSP00000493347.1:p.Asn333Tyr
ENST00000641228.1:c.806A>T	ENSP00000493194.1:p.Gln269Leu
ENST00000641332.1:c.*172A>T	ENSP00000493397.1:n.*172A>T
ENST00000641340.1:c.*240A>T	ENSP00000493191.1:n.*240A>T
ENST00000641388.1:n.358A>T
ENST00000641393.1:c.661A>T	ENSP00000493197.1:p.Asn221Tyr
ENST00000641397.1:c.692A>T	ENSP00000493406.1:p.Gln231Leu
ENST00000641413.1:c.36A>T
ENST00000641434.1:c.1111A>T	ENSP00000493279.1:p.Asn371Tyr
ENST00000641464.1:c.*344A>T	ENSP00000493438.1:n.*344A>T
ENST00000641482.1:c.1007A>T	ENSP00000493277.1:p.Gln336Leu
ENST00000641508.1:c.*344A>T	ENSP00000493209.1:n.*344A>T
ENST00000641509.1:c.796A>T	ENSP00000493459.1:p.Asn266Tyr
ENST00000641590.1:c.893A>T	ENSP00000493132.1:p.Gln298Leu
ENST00000641658.1:c.*276A>T	ENSP00000492987.1:n.*276A>T
ENST00000641686.2:c.1111A>T MANE Select	ENSP00000493218.2:p.Asn371Tyr
ENST00000641690.1:c.910A>T	ENSP00000492966.1:p.Asn304Tyr
ENST00000641742.1:c.*276A>T	ENSP00000493315.1:n.*276A>T
ENST00000641748.1:c.1111A>T	ENSP00000493330.1:p.Asn371Tyr
ENST00000641753.1:c.938A>T
ENST00000641774.1:c.*363A>T	ENSP00000492960.1:n.*363A>T
ENST00000641830.1:c.343A>T
ENST00000641843.1:c.*172A>T	ENSP00000493174.1:n.*172A>T
ENST00000641869.1:c.312A>T
ENST00000641870.1:c.*172A>T	ENSP00000493044.1:n.*172A>T
ENST00000641882.1:c.*276A>T	ENSP00000493301.1:n.*276A>T
ENST00000641928.1:c.*240A>T	ENSP00000493418.1:n.*240A>T
ENST00000641949.1:c.554-927A>T	ENSP00000492891.1:n.554-927A>T
ENST00000642012.1:n.975A>T
ENST00000642034.1:c.893A>T	ENSP00000493285.1:p.Gln298Leu
ENST00000642042.1:c.1111A>T	ENSP00000493260.1:p.Asn371Tyr
ENST00000642078.1:c.*172A>T	ENSP00000492885.1:n.*172A>T
ENST00000296468.7:c.1111A>T	ENSP00000296468.3:p.Asn371Tyr
ENST00000504126.1:n.139A>T
ENST00000505284.5:n.902A>T
ENST00000513559.5:c.976A>T	ENSP00000425000.1:p.Asn326Tyr
ENST00000515130.5:n.1453A>T
NM_152778.2:c.1111A>T	NP_689991.1:p.Asn371Tyr
XM_005262893.1:c.1111A>T	XP_005262950.1:p.Asn371Tyr
XM_005262896.1:c.964A>T	XP_005262953.1:p.Asn322Tyr
XM_005262897.1:c.910A>T	XP_005262954.1:p.Asn304Tyr
XM_005262898.2:c.1007A>T	XP_005262955.1:p.Gln336Leu
XM_011531830.1:c.997A>T	XP_011530132.1:p.Asn333Tyr
XM_011531831.1:c.796A>T	XP_011530133.1:p.Asn266Tyr
XM_011531832.1:c.893A>T	XP_011530134.1:p.Gln298Leu
XR_938717.1:n.1188A>T
NM_001363520.1:c.910A>T	NP_001350449.1:p.Asn304Tyr
NM_001363521.1:c.796A>T	NP_001350450.1:p.Asn266Tyr
XM_005262898.3:c.1007A>T	XP_005262955.1:p.Gln336Leu
XM_017007989.1:c.806A>T	XP_016863478.1:p.Gln269Leu
XM_024453981.1:c.976A>T	XP_024309749.1:p.Asn326Tyr
XM_024453982.1:c.862A>T	XP_024309750.1:p.Asn288Tyr
XM_024453983.1:c.661A>T	XP_024309751.1:p.Asn221Tyr
XR_001741194.1:n.1084A>T
XR_001741195.1:n.970A>T
XR_001741196.1:n.883A>T
XR_001741197.1:n.1043A>T
XR_001741198.2:n.939A>T
XR_001741199.1:n.939A>T
XR_938717.2:n.1188A>T
NM_001363520.2:c.910A>T	NP_001350449.1:p.Asn304Tyr
NM_001363521.2:c.796A>T	NP_001350450.1:p.Asn266Tyr
NM_001371590.1:c.976A>T	NP_001358519.1:p.Asn326Tyr
NM_001371591.1:c.1111A>T	NP_001358520.1:p.Asn371Tyr
NM_001371592.1:c.1117A>T	NP_001358521.1:p.Asn373Tyr
NM_001371593.1:c.997A>T	NP_001358522.1:p.Asn333Tyr
NM_001371594.1:c.964A>T	NP_001358523.1:p.Asn322Tyr
NM_001371595.1:c.829A>T	NP_001358524.1:p.Asn277Tyr
NM_001371596.2:c.1111A>T MANE Select	NP_001358525.1:p.Asn371Tyr
NM_152778.3:c.1111A>T	NP_689991.1:p.Asn371Tyr
NM_152778.4:c.1111A>T	NP_689991.1:p.Asn371Tyr