Canonical Allele Identifier: CA3077253

Gene: MFSD8

Linked Data

• ClinVar Variation Id: 533375
• ClinVar RCV Id: RCV002386060
• dbSNP Id: rs749153763
• ExAC: 4:128842707 T / C
• gnomAD v2: 4-128842707-T-C
• gnomAD v4: 4-127921552-T-C
• COSMIC: COSM1495655
• MyVariant Identifiers: chr4:g.128842707T>C (hg19) ; chr4:g.127921552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127921552T>C , CM000666.2:g.127921552T>C	GRCh38
NC_000004.11:g.128842707T>C , CM000666.1:g.128842707T>C	GRCh37
NC_000004.10:g.129062157T>C	NCBI36
NG_008657.1:g.49433A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296468.8:c.1322A>G	ENSP00000296468.3:p.Tyr441Cys
ENST00000509826.2:c.*643A>G	ENSP00000421176.2:n.*643A>G
ENST00000513559.6:c.1040A>G	ENSP00000425000.2:p.Tyr347Cys
ENST00000515130.6:c.*207A>G	ENSP00000493056.1:n.*207A>G
ENST00000641025.1:c.*207A>G	ENSP00000493346.1:n.*207A>G
ENST00000641092.1:c.*207A>G	ENSP00000493392.1:n.*207A>G
ENST00000641133.1:c.*636A>G	ENSP00000493192.1:n.*636A>G
ENST00000641146.1:n.1188A>G
ENST00000641147.1:c.872A>G	ENSP00000493133.1:p.Tyr291Cys
ENST00000641178.1:c.1187A>G	ENSP00000492989.1:p.Tyr396Cys
ENST00000641186.1:c.1208A>G	ENSP00000493347.1:p.Tyr403Cys
ENST00000641228.1:c.*207A>G	ENSP00000493194.1:n.*207A>G
ENST00000641332.1:c.*383A>G	ENSP00000493397.1:n.*383A>G
ENST00000641340.1:c.*451A>G	ENSP00000493191.1:n.*451A>G
ENST00000641388.1:n.569A>G
ENST00000641393.1:c.872A>G	ENSP00000493197.1:p.Tyr291Cys
ENST00000641397.1:c.*207A>G	ENSP00000493406.1:n.*207A>G
ENST00000641413.1:c.247A>G
ENST00000641434.1:c.1322A>G	ENSP00000493279.1:p.Tyr441Cys
ENST00000641464.1:c.*555A>G	ENSP00000493438.1:n.*555A>G
ENST00000641482.1:c.*207A>G	ENSP00000493277.1:n.*207A>G
ENST00000641508.1:c.*555A>G	ENSP00000493209.1:n.*555A>G
ENST00000641509.1:c.1007A>G	ENSP00000493459.1:p.Tyr336Cys
ENST00000641590.1:c.*207A>G	ENSP00000493132.1:n.*207A>G
ENST00000641658.1:c.*487A>G	ENSP00000492987.1:n.*487A>G
ENST00000641686.2:c.1322A>G MANE Select	ENSP00000493218.2:p.Tyr441Cys
ENST00000641690.1:c.1121A>G	ENSP00000492966.1:p.Tyr374Cys
ENST00000641742.1:c.*487A>G	ENSP00000493315.1:n.*487A>G
ENST00000641748.1:c.1322A>G	ENSP00000493330.1:p.Tyr441Cys
ENST00000641753.1:c.1149A>G
ENST00000641774.1:c.*574A>G	ENSP00000492960.1:n.*574A>G
ENST00000641830.1:c.554A>G
ENST00000641843.1:c.*383A>G	ENSP00000493174.1:n.*383A>G
ENST00000641869.1:c.523A>G
ENST00000641870.1:c.*383A>G	ENSP00000493044.1:n.*383A>G
ENST00000641882.1:c.*487A>G	ENSP00000493301.1:n.*487A>G
ENST00000641928.1:c.*451A>G	ENSP00000493418.1:n.*451A>G
ENST00000641949.1:c.554-716A>G	ENSP00000492891.1:n.554-716A>G
ENST00000642012.1:n.1186A>G
ENST00000642034.1:c.*207A>G	ENSP00000493285.1:n.*207A>G
ENST00000642042.1:c.1322A>G	ENSP00000493260.1:p.Tyr441Cys
ENST00000642078.1:c.*383A>G	ENSP00000492885.1:n.*383A>G
ENST00000296468.7:c.1322A>G	ENSP00000296468.3:p.Tyr441Cys
ENST00000504126.1:n.350A>G
ENST00000513559.5:c.1187A>G	ENSP00000425000.1:p.Tyr396Cys
ENST00000515130.5:n.1664A>G
NM_152778.2:c.1322A>G	NP_689991.1:p.Tyr441Cys
XM_005262893.1:c.1322A>G	XP_005262950.1:p.Tyr441Cys
XM_005262896.1:c.1175A>G	XP_005262953.1:p.Tyr392Cys
XM_005262897.1:c.1121A>G	XP_005262954.1:p.Tyr374Cys
XM_005262898.2:c.*207A>G	XP_005262955.1:n.*207A>G
XM_011531830.1:c.1208A>G	XP_011530132.1:p.Tyr403Cys
XM_011531831.1:c.1007A>G	XP_011530133.1:p.Tyr336Cys
XM_011531832.1:c.*207A>G	XP_011530134.1:n.*207A>G
XR_938717.1:n.1399A>G
NM_001363520.1:c.1121A>G	NP_001350449.1:p.Tyr374Cys
NM_001363521.1:c.1007A>G	NP_001350450.1:p.Tyr336Cys
XM_005262898.3:c.*207A>G	XP_005262955.1:n.*207A>G
XM_017007989.1:c.*207A>G	XP_016863478.1:n.*207A>G
XM_024453981.1:c.1187A>G	XP_024309749.1:p.Tyr396Cys
XM_024453982.1:c.1073A>G	XP_024309750.1:p.Tyr358Cys
XM_024453983.1:c.872A>G	XP_024309751.1:p.Tyr291Cys
XR_001741194.1:n.1295A>G
XR_001741195.1:n.1181A>G
XR_001741196.1:n.1094A>G
XR_001741197.1:n.1254A>G
XR_001741198.2:n.1150A>G
XR_001741199.1:n.1150A>G
XR_938717.2:n.1399A>G
NM_001363520.2:c.1121A>G	NP_001350449.1:p.Tyr374Cys
NM_001363521.2:c.1007A>G	NP_001350450.1:p.Tyr336Cys
NM_001371590.1:c.1187A>G	NP_001358519.1:p.Tyr396Cys
NM_001371591.1:c.1322A>G	NP_001358520.1:p.Tyr441Cys
NM_001371592.1:c.1328A>G	NP_001358521.1:p.Tyr443Cys
NM_001371593.1:c.1208A>G	NP_001358522.1:p.Tyr403Cys
NM_001371594.1:c.1175A>G	NP_001358523.1:p.Tyr392Cys
NM_001371595.1:c.1040A>G	NP_001358524.1:p.Tyr347Cys
NM_001371596.2:c.1322A>G MANE Select	NP_001358525.1:p.Tyr441Cys
NM_152778.3:c.1322A>G	NP_689991.1:p.Tyr441Cys
NM_152778.4:c.1322A>G	NP_689991.1:p.Tyr441Cys