Canonical Allele Identifier: CA358170709

Gene: MFSD8

Linked Data

• MyVariant Identifiers: chr4:g.128841913C>G (hg19) ; chr4:g.127920758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127920758C>G , CM000666.2:g.127920758C>G	GRCh38
NC_000004.11:g.128841913C>G , CM000666.1:g.128841913C>G	GRCh37
NC_000004.10:g.129061363C>G	NCBI36
NG_008657.1:g.50227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1429G>C	ENSP00000296468.3:p.Ala477Pro
ENST00000509826.2:c.*750G>C	ENSP00000421176.2:n.*750G>C
ENST00000513559.6:c.1147G>C	ENSP00000425000.2:p.Ala383Pro
ENST00000515130.6:c.*314G>C	ENSP00000493056.1:n.*314G>C
ENST00000641025.1:c.*314G>C	ENSP00000493346.1:n.*314G>C
ENST00000641092.1:c.*314G>C	ENSP00000493392.1:n.*314G>C
ENST00000641133.1:c.*1430G>C	ENSP00000493192.1:n.*1430G>C
ENST00000641146.1:n.1982G>C
ENST00000641147.1:c.979G>C	ENSP00000493133.1:p.Ala327Pro
ENST00000641178.1:c.1294G>C	ENSP00000492989.1:p.Ala432Pro
ENST00000641186.1:c.1315G>C	ENSP00000493347.1:p.Ala439Pro
ENST00000641228.1:c.*1001G>C	ENSP00000493194.1:n.*1001G>C
ENST00000641332.1:c.*571G>C	ENSP00000493397.1:n.*571G>C
ENST00000641340.1:c.*1245G>C	ENSP00000493191.1:n.*1245G>C
ENST00000641388.1:n.676G>C
ENST00000641393.1:c.979G>C	ENSP00000493197.1:p.Ala327Pro
ENST00000641397.1:c.*314G>C	ENSP00000493406.1:n.*314G>C
ENST00000641413.1:c.354G>C
ENST00000641434.1:c.1429G>C	ENSP00000493279.1:p.Ala477Pro
ENST00000641464.1:c.*662G>C	ENSP00000493438.1:n.*662G>C
ENST00000641482.1:c.*1001G>C	ENSP00000493277.1:n.*1001G>C
ENST00000641508.1:c.*662G>C	ENSP00000493209.1:n.*662G>C
ENST00000641509.1:c.1114G>C	ENSP00000493459.1:p.Ala372Pro
ENST00000641590.1:c.*1001G>C	ENSP00000493132.1:n.*1001G>C
ENST00000641658.1:c.*594G>C	ENSP00000492987.1:n.*594G>C
ENST00000641686.2:c.1429G>C MANE Select	ENSP00000493218.2:p.Ala477Pro
ENST00000641690.1:c.1228G>C	ENSP00000492966.1:p.Ala410Pro
ENST00000641742.1:c.*594G>C	ENSP00000493315.1:n.*594G>C
ENST00000641748.1:c.1429G>C	ENSP00000493330.1:p.Ala477Pro
ENST00000641753.1:c.1256G>C
ENST00000641774.1:c.*681G>C	ENSP00000492960.1:n.*681G>C
ENST00000641843.1:c.*490G>C	ENSP00000493174.1:n.*490G>C
ENST00000641869.1:c.630G>C
ENST00000641870.1:c.*1177G>C	ENSP00000493044.1:n.*1177G>C
ENST00000641882.1:c.*594G>C	ENSP00000493301.1:n.*594G>C
ENST00000641928.1:c.*558G>C	ENSP00000493418.1:n.*558G>C
ENST00000641949.1:c.632G>C	ENSP00000492891.1:p.Cys211Ser
ENST00000642012.1:n.1293G>C
ENST00000642034.1:c.*314G>C	ENSP00000493285.1:n.*314G>C
ENST00000642042.1:c.*748G>C	ENSP00000493260.1:n.*748G>C
ENST00000642078.1:c.*490G>C	ENSP00000492885.1:n.*490G>C
ENST00000296468.7:c.1429G>C	ENSP00000296468.3:p.Ala477Pro
ENST00000513559.5:c.1294G>C	ENSP00000425000.1:p.Ala432Pro
ENST00000515130.5:n.1771G>C
NM_152778.2:c.1429G>C	NP_689991.1:p.Ala477Pro
XM_005262893.1:c.1429G>C	XP_005262950.1:p.Ala477Pro
XM_005262896.1:c.1282G>C	XP_005262953.1:p.Ala428Pro
XM_005262897.1:c.1228G>C	XP_005262954.1:p.Ala410Pro
XM_005262898.2:c.*1001G>C	XP_005262955.1:n.*1001G>C
XM_011531830.1:c.1315G>C	XP_011530132.1:p.Ala439Pro
XM_011531831.1:c.1114G>C	XP_011530133.1:p.Ala372Pro
XM_011531832.1:c.*1001G>C	XP_011530134.1:n.*1001G>C
XR_938717.1:n.1912G>C
NM_001363520.1:c.1228G>C	NP_001350449.1:p.Ala410Pro
NM_001363521.1:c.1114G>C	NP_001350450.1:p.Ala372Pro
XM_005262898.3:c.*1001G>C	XP_005262955.1:n.*1001G>C
XM_017007989.1:c.*1001G>C	XP_016863478.1:n.*1001G>C
XM_024453981.1:c.1294G>C	XP_024309749.1:p.Ala432Pro
XM_024453982.1:c.1180G>C	XP_024309750.1:p.Ala394Pro
XM_024453983.1:c.979G>C	XP_024309751.1:p.Ala327Pro
XR_001741194.1:n.1402G>C
XR_001741195.1:n.1288G>C
XR_001741196.1:n.1201G>C
XR_001741197.1:n.2048G>C
XR_001741198.2:n.1944G>C
XR_001741199.1:n.1257G>C
XR_938717.2:n.1912G>C
NM_001363520.2:c.1228G>C	NP_001350449.1:p.Ala410Pro
NM_001363521.2:c.1114G>C	NP_001350450.1:p.Ala372Pro
NM_001371590.1:c.1294G>C	NP_001358519.1:p.Ala432Pro
NM_001371591.1:c.1438G>C	NP_001358520.1:p.Ala480Pro
NM_001371592.1:c.1435G>C	NP_001358521.1:p.Ala479Pro
NM_001371593.1:c.1315G>C	NP_001358522.1:p.Ala439Pro
NM_001371594.1:c.1282G>C	NP_001358523.1:p.Ala428Pro
NM_001371595.1:c.1147G>C	NP_001358524.1:p.Ala383Pro
NM_001371596.2:c.1429G>C MANE Select	NP_001358525.1:p.Ala477Pro
NM_152778.3:c.1429G>C	NP_689991.1:p.Ala477Pro
NM_152778.4:c.1429G>C	NP_689991.1:p.Ala477Pro