Canonical Allele Identifier: CA358171331

Gene: MFSD8

Linked Data

• gnomAD v4: 4-127921699-T-G
• MyVariant Identifiers: chr4:g.128842854T>G (hg19) ; chr4:g.127921699T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921699T>G , CM000666.2:g.127921699T>G	GRCh38
NC_000004.11:g.128842854T>G , CM000666.1:g.128842854T>G	GRCh37
NC_000004.10:g.129062304T>G	NCBI36
NG_008657.1:g.49286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.1175A>C	ENSP00000296468.3:p.Glu392Ala
ENST00000509826.2:c.*496A>C	ENSP00000421176.2:n.*496A>C
ENST00000513559.6:c.893A>C	ENSP00000425000.2:p.Glu298Ala
ENST00000515130.6:c.*60A>C	ENSP00000493056.1:n.*60A>C
ENST00000641025.1:c.*60A>C	ENSP00000493346.1:n.*60A>C
ENST00000641092.1:c.*60A>C	ENSP00000493392.1:n.*60A>C
ENST00000641133.1:c.*489A>C	ENSP00000493192.1:n.*489A>C
ENST00000641146.1:n.1041A>C
ENST00000641147.1:c.725A>C	ENSP00000493133.1:p.Glu242Ala
ENST00000641178.1:c.1040A>C	ENSP00000492989.1:p.Glu347Ala
ENST00000641186.1:c.1061A>C	ENSP00000493347.1:p.Glu354Ala
ENST00000641228.1:c.*60A>C	ENSP00000493194.1:n.*60A>C
ENST00000641332.1:c.*236A>C	ENSP00000493397.1:n.*236A>C
ENST00000641340.1:c.*304A>C	ENSP00000493191.1:n.*304A>C
ENST00000641388.1:n.422A>C
ENST00000641393.1:c.725A>C	ENSP00000493197.1:p.Glu242Ala
ENST00000641397.1:c.*60A>C	ENSP00000493406.1:n.*60A>C
ENST00000641413.1:c.100A>C
ENST00000641434.1:c.1175A>C	ENSP00000493279.1:p.Glu392Ala
ENST00000641464.1:c.*408A>C	ENSP00000493438.1:n.*408A>C
ENST00000641482.1:c.*60A>C	ENSP00000493277.1:n.*60A>C
ENST00000641508.1:c.*408A>C	ENSP00000493209.1:n.*408A>C
ENST00000641509.1:c.860A>C	ENSP00000493459.1:p.Glu287Ala
ENST00000641590.1:c.*60A>C	ENSP00000493132.1:n.*60A>C
ENST00000641658.1:c.*340A>C	ENSP00000492987.1:n.*340A>C
ENST00000641686.2:c.1175A>C MANE Select	ENSP00000493218.2:p.Glu392Ala
ENST00000641690.1:c.974A>C	ENSP00000492966.1:p.Glu325Ala
ENST00000641742.1:c.*340A>C	ENSP00000493315.1:n.*340A>C
ENST00000641748.1:c.1175A>C	ENSP00000493330.1:p.Glu392Ala
ENST00000641753.1:c.1002A>C
ENST00000641774.1:c.*427A>C	ENSP00000492960.1:n.*427A>C
ENST00000641830.1:c.407A>C
ENST00000641843.1:c.*236A>C	ENSP00000493174.1:n.*236A>C
ENST00000641869.1:c.376A>C
ENST00000641870.1:c.*236A>C	ENSP00000493044.1:n.*236A>C
ENST00000641882.1:c.*340A>C	ENSP00000493301.1:n.*340A>C
ENST00000641928.1:c.*304A>C	ENSP00000493418.1:n.*304A>C
ENST00000641949.1:c.554-863A>C	ENSP00000492891.1:n.554-863A>C
ENST00000642012.1:n.1039A>C
ENST00000642034.1:c.*60A>C	ENSP00000493285.1:n.*60A>C
ENST00000642042.1:c.1175A>C	ENSP00000493260.1:p.Glu392Ala
ENST00000642078.1:c.*236A>C	ENSP00000492885.1:n.*236A>C
ENST00000296468.7:c.1175A>C	ENSP00000296468.3:p.Glu392Ala
ENST00000504126.1:n.203A>C
ENST00000513559.5:c.1040A>C	ENSP00000425000.1:p.Glu347Ala
ENST00000515130.5:n.1517A>C
NM_152778.2:c.1175A>C	NP_689991.1:p.Glu392Ala
XM_005262893.1:c.1175A>C	XP_005262950.1:p.Glu392Ala
XM_005262896.1:c.1028A>C	XP_005262953.1:p.Glu343Ala
XM_005262897.1:c.974A>C	XP_005262954.1:p.Glu325Ala
XM_005262898.2:c.*60A>C	XP_005262955.1:n.*60A>C
XM_011531830.1:c.1061A>C	XP_011530132.1:p.Glu354Ala
XM_011531831.1:c.860A>C	XP_011530133.1:p.Glu287Ala
XM_011531832.1:c.*60A>C	XP_011530134.1:n.*60A>C
XR_938717.1:n.1252A>C
NM_001363520.1:c.974A>C	NP_001350449.1:p.Glu325Ala
NM_001363521.1:c.860A>C	NP_001350450.1:p.Glu287Ala
XM_005262898.3:c.*60A>C	XP_005262955.1:n.*60A>C
XM_017007989.1:c.*60A>C	XP_016863478.1:n.*60A>C
XM_024453981.1:c.1040A>C	XP_024309749.1:p.Glu347Ala
XM_024453982.1:c.926A>C	XP_024309750.1:p.Glu309Ala
XM_024453983.1:c.725A>C	XP_024309751.1:p.Glu242Ala
XR_001741194.1:n.1148A>C
XR_001741195.1:n.1034A>C
XR_001741196.1:n.947A>C
XR_001741197.1:n.1107A>C
XR_001741198.2:n.1003A>C
XR_001741199.1:n.1003A>C
XR_938717.2:n.1252A>C
NM_001363520.2:c.974A>C	NP_001350449.1:p.Glu325Ala
NM_001363521.2:c.860A>C	NP_001350450.1:p.Glu287Ala
NM_001371590.1:c.1040A>C	NP_001358519.1:p.Glu347Ala
NM_001371591.1:c.1175A>C	NP_001358520.1:p.Glu392Ala
NM_001371592.1:c.1181A>C	NP_001358521.1:p.Glu394Ala
NM_001371593.1:c.1061A>C	NP_001358522.1:p.Glu354Ala
NM_001371594.1:c.1028A>C	NP_001358523.1:p.Glu343Ala
NM_001371595.1:c.893A>C	NP_001358524.1:p.Glu298Ala
NM_001371596.2:c.1175A>C MANE Select	NP_001358525.1:p.Glu392Ala
NM_152778.3:c.1175A>C	NP_689991.1:p.Glu392Ala
NM_152778.4:c.1175A>C	NP_689991.1:p.Glu392Ala