Canonical Allele Identifier: CA441375848

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127921542-A-G
• MyVariant Identifiers: chr4:g.128842697A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921542A>G , CM000666.2:g.127921542A>G	GRCh38
NC_000004.11:g.128842697A>G , CM000666.1:g.128842697A>G	GRCh37
NC_000004.10:g.129062147A>G	NCBI36
NG_008657.1:g.49443T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1332T>C	ENSP00000296468.3:p.Ile444=
ENST00000509826.2:c.*653T>C	ENSP00000421176.2:n.*653T>C
ENST00000513559.6:c.1050T>C	ENSP00000425000.2:p.Ile350=
ENST00000515130.6:c.*217T>C	ENSP00000493056.1:n.*217T>C
ENST00000641025.1:c.*217T>C	ENSP00000493346.1:n.*217T>C
ENST00000641092.1:c.*217T>C	ENSP00000493392.1:n.*217T>C
ENST00000641133.1:c.*646T>C	ENSP00000493192.1:n.*646T>C
ENST00000641146.1:n.1198T>C
ENST00000641147.1:c.882T>C	ENSP00000493133.1:p.Ile294=
ENST00000641178.1:c.1197T>C	ENSP00000492989.1:p.Ile399=
ENST00000641186.1:c.1218T>C	ENSP00000493347.1:p.Ile406=
ENST00000641228.1:c.*217T>C	ENSP00000493194.1:n.*217T>C
ENST00000641332.1:c.*393T>C	ENSP00000493397.1:n.*393T>C
ENST00000641340.1:c.*461T>C	ENSP00000493191.1:n.*461T>C
ENST00000641388.1:n.579T>C
ENST00000641393.1:c.882T>C	ENSP00000493197.1:p.Ile294=
ENST00000641397.1:c.*217T>C	ENSP00000493406.1:n.*217T>C
ENST00000641413.1:c.257T>C
ENST00000641434.1:c.1332T>C	ENSP00000493279.1:p.Ile444=
ENST00000641464.1:c.*565T>C	ENSP00000493438.1:n.*565T>C
ENST00000641482.1:c.*217T>C	ENSP00000493277.1:n.*217T>C
ENST00000641508.1:c.*565T>C	ENSP00000493209.1:n.*565T>C
ENST00000641509.1:c.1017T>C	ENSP00000493459.1:p.Ile339=
ENST00000641590.1:c.*217T>C	ENSP00000493132.1:n.*217T>C
ENST00000641658.1:c.*497T>C	ENSP00000492987.1:n.*497T>C
ENST00000641686.2:c.1332T>C MANE Select	ENSP00000493218.2:p.Ile444=
ENST00000641690.1:c.1131T>C	ENSP00000492966.1:p.Ile377=
ENST00000641742.1:c.*497T>C	ENSP00000493315.1:n.*497T>C
ENST00000641748.1:c.1332T>C	ENSP00000493330.1:p.Ile444=
ENST00000641753.1:c.1159T>C
ENST00000641774.1:c.*584T>C	ENSP00000492960.1:n.*584T>C
ENST00000641830.1:c.564T>C
ENST00000641843.1:c.*393T>C	ENSP00000493174.1:n.*393T>C
ENST00000641869.1:c.533T>C
ENST00000641870.1:c.*393T>C	ENSP00000493044.1:n.*393T>C
ENST00000641882.1:c.*497T>C	ENSP00000493301.1:n.*497T>C
ENST00000641928.1:c.*461T>C	ENSP00000493418.1:n.*461T>C
ENST00000641949.1:c.554-706T>C	ENSP00000492891.1:n.554-706T>C
ENST00000642012.1:n.1196T>C
ENST00000642034.1:c.*217T>C	ENSP00000493285.1:n.*217T>C
ENST00000642042.1:c.1332T>C	ENSP00000493260.1:p.Ile444=
ENST00000642078.1:c.*393T>C	ENSP00000492885.1:n.*393T>C
ENST00000296468.7:c.1332T>C	ENSP00000296468.3:p.Ile444=
ENST00000504126.1:n.360T>C
ENST00000513559.5:c.1197T>C	ENSP00000425000.1:p.Ile399=
ENST00000515130.5:n.1674T>C
NM_152778.2:c.1332T>C	NP_689991.1:p.Ile444=
XM_005262893.1:c.1332T>C	XP_005262950.1:p.Ile444=
XM_005262896.1:c.1185T>C	XP_005262953.1:p.Ile395=
XM_005262897.1:c.1131T>C	XP_005262954.1:p.Ile377=
XM_005262898.2:c.*217T>C	XP_005262955.1:n.*217T>C
XM_011531830.1:c.1218T>C	XP_011530132.1:p.Ile406=
XM_011531831.1:c.1017T>C	XP_011530133.1:p.Ile339=
XM_011531832.1:c.*217T>C	XP_011530134.1:n.*217T>C
XR_938717.1:n.1409T>C
NM_001363520.1:c.1131T>C	NP_001350449.1:p.Ile377=
NM_001363521.1:c.1017T>C	NP_001350450.1:p.Ile339=
XM_005262898.3:c.*217T>C	XP_005262955.1:n.*217T>C
XM_017007989.1:c.*217T>C	XP_016863478.1:n.*217T>C
XM_024453981.1:c.1197T>C	XP_024309749.1:p.Ile399=
XM_024453982.1:c.1083T>C	XP_024309750.1:p.Ile361=
XM_024453983.1:c.882T>C	XP_024309751.1:p.Ile294=
XR_001741194.1:n.1305T>C
XR_001741195.1:n.1191T>C
XR_001741196.1:n.1104T>C
XR_001741197.1:n.1264T>C
XR_001741198.2:n.1160T>C
XR_001741199.1:n.1160T>C
XR_938717.2:n.1409T>C
NM_001363520.2:c.1131T>C	NP_001350449.1:p.Ile377=
NM_001363521.2:c.1017T>C	NP_001350450.1:p.Ile339=
NM_001371590.1:c.1197T>C	NP_001358519.1:p.Ile399=
NM_001371591.1:c.1332T>C	NP_001358520.1:p.Ile444=
NM_001371592.1:c.1338T>C	NP_001358521.1:p.Ile446=
NM_001371593.1:c.1218T>C	NP_001358522.1:p.Ile406=
NM_001371594.1:c.1185T>C	NP_001358523.1:p.Ile395=
NM_001371595.1:c.1050T>C	NP_001358524.1:p.Ile350=
NM_001371596.2:c.1332T>C MANE Select	NP_001358525.1:p.Ile444=
NM_152778.3:c.1332T>C	NP_689991.1:p.Ile444=
NM_152778.4:c.1332T>C	NP_689991.1:p.Ile444=