Canonical Allele Identifier: CA358175207

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 975447
• ClinVar RCV Id: RCV001252076
• dbSNP Id: rs1739586527
• MyVariant Identifiers: chr4:g.128859956T>A (hg19) ; chr4:g.127938801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127938801T>A , CM000666.2:g.127938801T>A	GRCh38
NC_000004.11:g.128859956T>A , CM000666.1:g.128859956T>A	GRCh37
NC_000004.10:g.129079406T>A	NCBI36
NG_008657.1:g.32184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296468.8:c.736A>T	ENSP00000296468.3:p.Ser246Cys
ENST00000505284.6:n.952A>T
ENST00000509826.2:c.698+1052A>T	ENSP00000421176.2:n.698+1052A>T
ENST00000513559.6:c.454A>T	ENSP00000425000.2:p.Ser152Cys
ENST00000515130.6:c.601A>T	ENSP00000493056.1:p.Ser201Cys
ENST00000641025.1:c.736A>T	ENSP00000493346.1:p.Ser246Cys
ENST00000641092.1:c.553+3244A>T	ENSP00000493392.1:n.553+3244A>T
ENST00000641133.1:c.*50A>T	ENSP00000493192.1:n.*50A>T
ENST00000641134.1:c.456A>T	ENSP00000492925.1:p.Lys152Asn
ENST00000641147.1:c.304+4951A>T	ENSP00000493133.1:n.304+4951A>T
ENST00000641178.1:c.601A>T	ENSP00000492989.1:p.Ser201Cys
ENST00000641186.1:c.622A>T	ENSP00000493347.1:p.Ser208Cys
ENST00000641228.1:c.553+3244A>T	ENSP00000493194.1:n.553+3244A>T
ENST00000641243.1:c.591A>T	ENSP00000493083.1:p.Lys197Asn
ENST00000641264.1:c.*533A>T	ENSP00000492908.1:n.*533A>T
ENST00000641332.1:c.591A>T	ENSP00000493397.1:p.Lys197Asn
ENST00000641340.1:c.698+1052A>T	ENSP00000493191.1:n.698+1052A>T
ENST00000641369.1:c.232A>T	ENSP00000493037.1:p.Ser78Cys
ENST00000641393.1:c.304+4951A>T	ENSP00000493197.1:n.304+4951A>T
ENST00000641397.1:c.439+4951A>T	ENSP00000493406.1:n.439+4951A>T
ENST00000641434.1:c.736A>T	ENSP00000493279.1:p.Ser246Cys
ENST00000641464.1:c.449+1052A>T	ENSP00000493438.1:n.449+1052A>T
ENST00000641482.1:c.736A>T	ENSP00000493277.1:p.Ser246Cys
ENST00000641503.1:c.622A>T	ENSP00000493304.1:p.Ser208Cys
ENST00000641508.1:c.698+1052A>T	ENSP00000493209.1:n.698+1052A>T
ENST00000641509.1:c.439+4951A>T	ENSP00000493459.1:n.439+4951A>T
ENST00000641538.1:c.582A>T
ENST00000641590.1:c.622A>T	ENSP00000493132.1:p.Ser208Cys
ENST00000641658.1:c.456A>T	ENSP00000492987.1:p.Lys152Asn
ENST00000641686.2:c.736A>T MANE Select	ENSP00000493218.2:p.Ser246Cys
ENST00000641690.1:c.553+3244A>T	ENSP00000492966.1:n.553+3244A>T
ENST00000641695.1:c.*20A>T	ENSP00000493134.1:n.*20A>T
ENST00000641742.1:c.591A>T	ENSP00000493315.1:p.Lys197Asn
ENST00000641743.1:c.736A>T	ENSP00000493130.1:p.Ser246Cys
ENST00000641748.1:c.736A>T	ENSP00000493330.1:p.Ser246Cys
ENST00000641753.1:c.563A>T
ENST00000641774.1:c.584+1052A>T	ENSP00000492960.1:n.584+1052A>T
ENST00000641776.1:c.*288A>T	ENSP00000493261.1:n.*288A>T
ENST00000641830.1:c.72A>T
ENST00000641843.1:c.342A>T	ENSP00000493174.1:p.Lys114Asn
ENST00000641869.1:c.41A>T
ENST00000641870.1:c.591A>T	ENSP00000493044.1:p.Lys197Asn
ENST00000641882.1:c.477A>T	ENSP00000493301.1:p.Lys159Asn
ENST00000641928.1:c.449+1052A>T	ENSP00000493418.1:n.449+1052A>T
ENST00000641949.1:c.553+3244A>T	ENSP00000492891.1:n.553+3244A>T
ENST00000642012.1:n.600A>T
ENST00000642034.1:c.622A>T	ENSP00000493285.1:p.Ser208Cys
ENST00000642042.1:c.736A>T	ENSP00000493260.1:p.Ser246Cys
ENST00000642078.1:c.456A>T	ENSP00000492885.1:p.Lys152Asn
ENST00000642121.1:n.91-7984A>T
ENST00000296468.7:c.736A>T	ENSP00000296468.3:p.Ser246Cys
ENST00000505284.5:n.631A>T
ENST00000508441.1:n.603A>T
ENST00000509826.1:c.449+1052A>T	ENSP00000421176.1:n.449+1052A>T
ENST00000513559.5:c.601A>T	ENSP00000425000.1:p.Ser201Cys
ENST00000515130.5:n.1182A>T
NM_152778.2:c.736A>T	NP_689991.1:p.Ser246Cys
XM_005262893.1:c.736A>T	XP_005262950.1:p.Ser246Cys
XM_005262896.1:c.589A>T	XP_005262953.1:p.Ser197Cys
XM_005262897.1:c.553+3244A>T	XP_005262954.1:n.553+3244A>T
XM_005262898.2:c.736A>T	XP_005262955.1:p.Ser246Cys
XM_005262900.2:c.591A>T	XP_005262957.1:p.Lys197Asn
XM_011531830.1:c.622A>T	XP_011530132.1:p.Ser208Cys
XM_011531831.1:c.439+4951A>T	XP_011530133.1:n.439+4951A>T
XM_011531832.1:c.622A>T	XP_011530134.1:p.Ser208Cys
XR_938717.1:n.813A>T
NM_001363520.1:c.553+3244A>T	NP_001350449.1:n.553+3244A>T
NM_001363521.1:c.439+4951A>T	NP_001350450.1:n.439+4951A>T
XM_005262898.3:c.736A>T	XP_005262955.1:p.Ser246Cys
XM_017007989.1:c.553+3244A>T	XP_016863478.1:n.553+3244A>T
XM_024453981.1:c.601A>T	XP_024309749.1:p.Ser201Cys
XM_024453982.1:c.487A>T	XP_024309750.1:p.Ser163Cys
XM_024453983.1:c.304+4951A>T	XP_024309751.1:n.304+4951A>T
XR_001741194.1:n.813A>T
XR_001741195.1:n.699A>T
XR_001741196.1:n.630+3244A>T
XR_001741197.1:n.668A>T
XR_001741198.2:n.668A>T
XR_001741199.1:n.668A>T
XR_938717.2:n.813A>T
NM_001363520.2:c.553+3244A>T	NP_001350449.1:n.553+3244A>T
NM_001363521.2:c.439+4951A>T	NP_001350450.1:n.439+4951A>T
NM_001371590.1:c.601A>T	NP_001358519.1:p.Ser201Cys
NM_001371591.1:c.736A>T	NP_001358520.1:p.Ser246Cys
NM_001371592.1:c.742A>T	NP_001358521.1:p.Ser248Cys
NM_001371593.1:c.622A>T	NP_001358522.1:p.Ser208Cys
NM_001371594.1:c.589A>T	NP_001358523.1:p.Ser197Cys
NM_001371595.1:c.454A>T	NP_001358524.1:p.Ser152Cys
NM_001371596.2:c.736A>T MANE Select	NP_001358525.1:p.Ser246Cys
NM_152778.3:c.736A>T	NP_689991.1:p.Ser246Cys
NM_152778.4:c.736A>T	NP_689991.1:p.Ser246Cys